Hot Careers: Become a Certified Genetic Counselor!

Do you like genetics and working with patients? Do you want to be a genetic counselor? Are you interested in learning more about the field? These are a few of the first things individuals interested in the career often think about. The second is often figuring out how to get a starting foot into the process. Either way, genetic counseling is an exciting field that is rewarding in many ways.

What is certified genetic counseling?

The National Society of Genetic Counselors defines the “professional as having specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health” (NSGC). As a profession, genetic counseling is exciting, booming, and overall boasts a high satisfaction rate. In terms of a career profile, in 2016, NSGC’s Professional Status Survey quoted genetic counselors’ average salaries at around $81,000. The most exciting prospect is that this is an ever-growing field, with opportunities to do work in clinical, industry, research, and educational settings. The potential for growth was marked at 29% by the U.S. Bureau of Labor Statistics, and the demand for genetic counselors just keeps growing and growing. As genetics becomes more integrated with the field of personalized medicine, larger amounts of patients wish to know about their genetic makeup. The demand for someone with both the ability to interpret genetic results as well as communicate it effectively is definitely rising.

What about the field?

The field of genetic counseling has been around since the early 1940s and has only continued to expand as the years have gone by. Now, there are 36 accredited programs in the United States as well as 3 in Canada to which interested individuals can apply (ACGC). Application dates typically open early in the Fall and have varying closing dates, depending on the program.

What is the general application process?

Applying to a genetic counseling program is a multi-step process that involves a series of requirements as well as recommended activities. When applying, every program has different classes that are required, so a good tip is to keep track of which schools require specific biology, chemistry, psychology, or additional courses. Additionally, programs often recommend gaining experience working with people in crisis. This can be through volunteering for crisis organizations, working in various shelters, through mentoring youth—there are many options as to what kind of work this can be.

More so, the programs also generally recommend some kind of shadowing exposure to the field. Whether this is through shadowing clinical genetic counselors or working with industry/laboratory genetic counselors, any interactions with the field are sure to be a gain in knowledge about the profession. A few more standard and general requirements such as obtaining a Bachelors of Science or a Bachelors of Art, submitting college transcripts, taking the GREs, and obtaining letters of recommendation are important to finish out the application process. Again, it is important to note that each program has a different set of requirements, but many of them overlap with each other. Always feel free to reach out to the programs if you have any questions regarding the application process. Someone will get back to you and try to answer your questions if you have confusion about prerequisites or would like some advice.

An excellent resource (that I wish I would have had) is the following spreadsheet created by Tia Moscarello & Erin Syverson of the Prospective Students Task Force Leaders 2016. They compiled all the information regarding each program as a useful tool for individuals applying for genetic counseling programs.

Why become a genetic counselor?

With some general knowledge now of how to apply to a genetic counseling program, let us talk about the wonderful benefits that come along with being a genetic counselor. One of the main attributes involves the intersection of genetics and patient care. A few quotes from some fellow first years can better explain why they were interested in pursuing a career in genetic counseling:

  • “I loved the prospect of a career that merged my love of genetics with the ability to help patients.”
  • “The fluidity of the field was so compelling. I could potentially teach, work in a lab, or even see patients. I might be able to even do a combination of all the aspects.”
  • “I’ve been research heavy for years and felt removed from direct interactions with people. I wanted to do something that more directly benefited people.”
  • “I left college and worked in a genetic testing laboratory. I talked to some GCs and got their perspectives about my career choices. Next thing I knew, I applied!”
  • “What I really liked about it was the concept of being able to directly apply what we’ve learned in doing research on these diseases to a clinical setting.”
  • “I love that genetic counseling incorporates a strong psychosocial piece into the practice of medicine; I think that it is so important to understand how science can impact the lives of people and their families beyond surface-level medical decisions.”

There are definitely a variety of ways to get involved with the genetic counseling field first hand, and an even larger variety of reasons as to why people got involved. These are just a few tips to consider when considering a career in genetic counseling!

Resources:

https://www.bls.gov/ooh/healthcare/genetic-counselors.htm

www.nsgc.org

http://gceducation.org/pages/accredited-programs.aspx

Alice is a first-year graduate student at the Northwestern University Graduate Program in Genetic Counseling (http://www.cgm.northwestern.edu/education/graduate-genetic-medicine/index.html). Prior to entering the program, she interned at an industry laboratory and volunteered at a DV hotline in San Diego. She is a transplant from the California Bay Area and is currently enjoying her time living, learning about genetic counseling in depth, and exploring all the sights in Chicago.


Pathway Genomics is an ethically based genetic testing lab and generously supports ihavelynchsyndrome.org’s mission. Most genetic counselors in the United States are listed on www.nsgc.org in the search function on the home page.  To learn more about Pathway, its hereditary cancer products, the genetic testing process, and help finding a certified genetic counselor, please go to: https://www.pathway.com. Or please reach out to me and I will help you!

Did you know ihavelynchsyndrome.org has a Facebook page? Read the latest reviews about ihavelynchsyndrome.org‘s advocacy efforts!

Gratitude to Pathway Genomics for sponsoring ihavelynchsyndrome.org and its mission! Together we are helping countless people and saving lives!

Yours,

Georgia M. Hurst

Founder and Executive Director of ihavelynchsyndrome.org

 

 

Guardian of the Genome: An Overview of Li-Fraumeni Syndrome

Li-Fraumeni syndrome

Li-Fraumeni syndrome

When I was initially diagnosed with Lynch syndrome, I became highly interested in other hereditary cancer syndromes and wanted to learn as much about them as I could. Reading about them gave me tremendous perspective. The more I read, the more I recognized the parallels between them … there may be some different cancer manifestations of these syndromes but for the most part the emotional gravity of having a hereditary cancer syndrome is the same.

-Georgia


You may be familiar with the BRCA genes and Lynch syndrome, but there are many other cancer predisposition syndromes that affect people around the world. One such condition is Li-Fraumeni syndrome – a rare syndrome that affects about 1 in 20,000 people. Li-Fraumeni syndrome was identified by Dr. Frederick Li and Dr. Joseph Fraumeni in 1969. The two doctors noted a number of families affected by multiples types of cancer and cancers that developed at a young age. Their research of these notable families ultimately led to the discovery of a new cancer predisposition syndrome and the gene responsible for the condition.

What is Li-Fraumeni Syndrome?

Li-Fraumeni syndrome is an inherited condition that increases a person’s risk for a wide range of cancers. Individuals with Li-Fraumeni syndrome are at risk for the following types of cancer:

  • Pre-menopausal breast cancer
  • Brain tumors
  • Soft tissue sarcomas
  • Bone sarcomas
  • Adrenal cortical tumors
  • Leukemia
  • Melanoma
  • Gastrointestinal cancers (colon, stomach, pancreas)

Li-Fraumeni syndrome affects both men and women, although women are more likely to develop cancer due to the risk for breast cancer. Individuals with Li-Fraumeni syndrome have a high risk for developing multiple primary cancers during their lifetime. There is also a higher likelihood of developing cancer at a younger age than expected. Cancers may occur in young adulthood, or even as early as childhood. The risk for childhood cancers, such as brain tumors and leukemia, makes Li-Fraumeni syndrome distinct from other cancer predisposition syndromes.

What causes Li-Fraumeni Syndrome?

Li-Fraumeni is caused by mutations in the TP53 gene. TP53 is one of many tumor suppressor genes that help protect our bodies from cancer. This gene contains the instructions for the body to make “tumor protein 53”, also known as “p53”. P53 is responsible for fixing errors that arise during the process of cell division. This protein works in different types of cells throughout our entire body, making it very important. Because of its critical functions, p53 has been called “the guardian of the genome.”

In Li-Fraumeni syndrome, a person is born with a mutation in TP53 that prevents the gene from working like it is supposed to. It is natural for our bodies to make errors during the process of cell division. Certain environmental exposures, such as UV rays from the sun, may also cause damage in our cells. Typically, the p53 protein can fix these mistakes. When someone has a mutation in TP53, there is not enough p53 protein to catch all of the errors that can happen. This means there is a higher chance for cells to continuing growing abnormally following a mistake, which can ultimately lead to cancer.

What is the medical management for Li-Fraumeni syndrome?

The medical community has established several screening guidelines to help reduce the risk for cancer in Li-Fraumeni patients. Because of the multitude of cancer risks, a newly diagnosed patient should meet with a genetic counselor and appropriate specialists to develop an individualized screening plan. In general, annual whole body MRIs are recommended to thoroughly check for tumors. Radiation exposure, including radiation therapy, should be kept to a minimum. Some of the screening guidelines for Li-Fraumeni syndrome overlap with BRCA1/2 and Lynch syndrome, due to the risk for early-onset breast cancer and colon cancer.

How is Li-Fraumeni syndrome inherited?

Every person has two copies of the TP53 gene – one inherited from their mother, and one inherited from their father. A person who has Li-Fraumeni syndrome has a mutation in one copy of the TP53 gene. In other words, it is an autosomal dominant condition. Someone with Li-Fraumeni syndrome has a 50% chance of passing on the copy of TP53 with the mutation to each of their children. There is also a 50% chance that parents and siblings have the same mutation.

Most cases of Li-Fraumeni syndrome are familial and a strong family history of cancer is observed. Individuals diagnosed with Li-Fraumeni syndrome usually inherited the gene mutation from either their mother or father. In up to 20%of cases, the condition is caused by a new or “de novo” mutation. This means the patient is the first person in the family to have Li-Fraumeni syndrome, and there may be no other family history of cancer.

Who should have testing for Li-Fraumeni syndrome?

Genetic testing for Li-Fraumeni syndrome is typically offered to people who meet any of the following criteria:

  • Women who have had breast cancer prior to age 30 (especially if BRCA1 and BRCA2 genetic testing was negative)
  • Individuals who have had adrenocortical carcinoma (a type of tumor found in a gland above the kidney)
  • Individuals who have had choroid plexus carcinoma (a rare type of childhood brain tumor)
  • Individuals who have had any Li-Fraumeni associated cancer diagnosed before age 46 AND have at least one close relative also diagnosed with a Li-Fraumeni cancer
  • Individuals who have had two or more types of cancer associated with Li-Fraumeni, with the first being diagnosed prior to age 46

Testing for Li-Fraumeni syndrome is also recommended when there is a known TP53 mutation in the family. Unlike most inherited cancer syndromes, genetic testing for TP53 is warranted for children. This is because of the increased risk for childhood cancers. Screening for cancers can start at an earlier age, so it is helpful to know if children and young adults have a mutation. In other inherited cancer syndromes, genetic testing for a familial mutation is not usually recommended until a child turns 18 and can make their own medical decisions. It can be difficult for parents to decide when to have their children tested, as this information will impact the rest of their lives. A genetic counselor can help with this discussion, as the most appropriate timing varies for every family.

Genetic testing for TP53 is available through several commercial laboratories. Individuals who seek genetic testing should request an appointment with a genetic counselor to learn more about inherited cancer syndromes and to discuss the benefits, risks and limitations of genetic testing.

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Rebecca is a second year graduate student at the Northwestern University Graduate Program in Genetic Counseling. She is simultaneously pursuing a masters degree in medical humanities and bioethics at Northwestern. Rebecca originally hails from the San Francisco Bay Area and worked at a genetic testing laboratory prior to graduate school. In her free time, she enjoys hiking, cooking, and trying new workout classes.


Pathway’s genetic tests screen a number of known genes related to hereditary cancers. The goal of every test is to determine a patient’s risk of cancer. This knowledge can help your physician to develop the appropriate or preventative treatment plan for early detection. If the results of your test indicate an increased risk for cancer, your doctor may order tests like mammograms, colonoscopy and CT scans for any possible diagnosis and immediate intervention.

Pathway Genomics provides genetic testing for Li-Fraumeni syndrome. Please ask your doctor and certified genetic counselor if you are a candidate for genetic testing.


I recently hosted the Pink and Blue: Colors of Hereditary Cancer in Chicago on December 1st! We had a great turn out and my #GenCSM partners, Amy Byer Shainman and Ellen Matloff, attended the event! I would like to thank them and Dr. Liu and Scott Weissman, CGC, for being on the stellar Q & A panel! Gratitude to Pathway Genomics for sponsoring the screening in Chicago!

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We recently also had our #GenCSM tweet chat with thee Dr. Siddhartha Mukherjee and it was our most successful #GenCSM chat to date! Dr. Mukherjee was very gracious to spend an hour with us, answering our questions and addressing questions from the audience.

Please click here to read the transcript! Again, gratitude to Pathway Genomics for sponsoring it!

Together we are raising awareness and truly saving lives!

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Happy Holidays to you and yours and may your New Year be filled with health, happiness, and love.

Yours,

Georgia Hurst

Founder and Executive Director of ihavelynchsyndrome.org

 

 

 

Thanksgiving is National Family Health History Day!

 

Thanksgiving is National Family Health History Day!

Thanksgiving is National Family Health History Day!

With the holiday season fast approaching in the US, many of us are looking forward to celebrating by spending quality time with family. But besides enjoying turkey dinners and holiday sales, did you also know that Thanksgiving is a great time to gather a family health history?

In 2004, the U.S. Surgeon General declared Thanksgiving as National Family Health History Day. This information is very useful for your health care providers to know what medical conditions you may be at risk for based on your family history, and how to better manage your care to reduce the risk of developing those conditions. With multiple generations usually gathered in one place to celebrate in a relaxed atmosphere, Thanksgiving is the perfect time to gather health information from many relatives at once.

Why is it important?

There are many health conditions that can be inherited or passed down in a family. If a close relative develops a health condition such as colon cancer, there is a chance that they may carry a genetic change or mutation that put them at an increased risk for cancer, which you could have also possibly inherited. If your doctors know about this family history, there are preventative measures that may be taken to possibly prevent you from developing that same health condition in the future

How do I gather it?

Ask your family members about their general health and any chronic health conditions they may have had (cancer, heart disease, diabetes, stroke, thyroid issues, autoimmune diseases, hypertension, etc.).

There is some specific information about the family history related to cancer that would be helpful for your health care providers to know, such as:

  • Specific cancers diagnosed in the family
  • Ages at diagnosis
  • Ages at death and cause (if applicable)  
  • Any treatments they received
  • Medications they may be taking
  • Information about any genetic testing that may have been performed

Whom do I include?

Information about your closest blood relatives will be most helpful because they share much of the same genetic information as you. This includes:

  • Parents
  • Siblings
  • Children
  • Grandparents
  • Aunts and uncles
  • First cousins

What do I do with this information once it’s gathered?

  • Share it with your health care providers so that they can provide a risk assessment and make medical recommendations
  • Share this information with other family members
  • Update it as you learn more information

Helpful tools

The US Surgeon General and the Department of Health and Human Services have published an online tool called My Family Health Portrait to make it easier to collect and store a family health history. Once the information is filled in, you can save the information in both a family tree and table format to share with others!

Online version: https://familyhistory.hhs.gov/

Printable version: http://www.hhs.gov/sites/default/files/familyhistory/portrait/portraiteng.pdf

Resources:

http://www.surgeongeneral.gov/priorities/family-health-history/

http://www.cdc.gov/Features/FamilyHealthHistory/

http://www.hhs.gov/programs/prevention-and-wellness/family-health-history/about-family-health-history/index.html

Happy Thanksgiving!

Sincerely,

Lauren Gima

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Lauren Gima is a second year student in the Master’s Program in Genetic Counseling at Northwestern University. She will graduate in March 2017 with experience in cancer, prenatal, and pediatric genetic counseling.

She has a background in research regarding inflammatory bowel disease and is currently working on her thesis project exploring healthcare providers’ interactions with FAP and Lynch syndrome patients. Originally from Southern California,

Lauren is always looking for the next great restaurant to try and enjoys hiking and swimming with her dog, Riley.


Kendra Fromme, a budding genetic counselor, also from Northwestern, is conducting a research study on fertility preservation. Please click here for the link to the study! Please feel free to contact her with any questions. Thank you!

when-everything-seems-to-be-going-against-you-remember-that-the-airplane-takes-off-against-the-wind-not-with-it


 

The stellar documentary Pink and Blue is coming to Chicago on December 1st and Amy Byer Shainman, Ellen Matloff, and I will all be there! Ihavelynchsyndrome.com is honored Pathway Genomics is sponsoring Chicago’s screening of Pink and Blue!

Please click here for more details! Please be sure to purchase your tickets in advance!

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Pathway Genomics is dedicated to innovation and is a leader in the genetic testing industry!

It offers the BreastTrue® High Risk Panel — a next-generation sequencing test with deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2 and PALB2.

Recent studies of breast cancer survivors have shown that approximately 70 percent of the mutations identified were BRCA1/2 mutations. Approximately 4 percent had germline mutations in other cancer-susceptibility genes, including high-risk genes. These additional high-risk genes include CDH1PALB2PTENSTK11, and TP53. Pathway Genomics’ BreastTrue® High Risk Panel analyzes all of these genes. Please talk to your doctor and a certified genetic counselor to see if genetic testing may be right for you. Please click here to learn more.


Happy Thanksgiving!

Yours,

Georgia Hurst

Founder and Executive Director of the Nonprofit: ihavelynchsyndrome.org 501(c)(3)

 

 

 

What is PGD? How Can It Help Those with Lynch syndrome?

abstract illustration of the concept of medicine and science

What is Preimplantation Genetic Diagnosis and How Can It Help Those with Lynch syndrome? 

Preimplantation genetic diagnosis (PGD) was introduced in 1990 and has provided a way to screen embryos for genetic conditions, chromosomal abnormalities, and mitochondrial disorders. This method enables couples to perform an embryo genetic analysis before transferring the embryo to the uterus during an in vitro fertilization (IVF) cycle. Before the introduction of PGD, the only option available to couples with a hereditary genetic condition was to naturally conceive and then perform prenatal testing, such as a chorionic villus sampling (CVS) or an amniocentesis. Then the couple had the choice of continuing the pregnancy or selective abortion if the pregnancy was affected. With PGD, a couple does not have to make the decision to terminate an affected pregnancy, but rather select for unaffected embryos before pregnancy.

The process of PGD begins with IVF. In IVF, there are several rounds of hormone cycles performed to extract eggs from women. After joining of sperm and egg, or fertilization, the single cell starts to divide and grow. At day 3 after fertilization, embryos consist of 6-8 cells. One of these cells can be removed for testing. While there are many different forms of biopsy, removing one cell at day 3 is the most common form of biopsy, called a cleavage stage biopsy. Removing more than one cell can cause damage to the embryo, therefore one cell is only removed.

Once that cell is removed, PGD can be used to look at the genetic material of that cell. There are several different techniques available depending on what the embryo is being screened for. In the case of a parent with Lynch syndrome or another type of cancer syndrome, typically a process called polymerase chain reaction (PCR) is used to specifically look at the DNA of the cell to read through the code of the DNA and look for the mutation or genetic change that the parent has. While PGD is not perfect, it is continually improving its ability to accurately detect affected embryos at such a young stage.

There are many reasons why a couple will be referred for PGD. If a couple has had genetic testing and is known to carry a genetic mutation, then it is appropriate for them to be referred to PGD. Autosomal recessive conditions where both parents are known to be carriers for the genetic condition, such as Tay Sachs disease, Cystic Fibrosis, or sickle cell disease is appropriate.

In addition, autosomal dominant conditions like Lynch syndrome or Huntington’s disease, where there is a 50/50 chance of passing on the genetic mutation to posterity, is also indicated for referral to PGD. Lastly, it is common to be referred to PGD for X-linked conditions and parental balanced chromosomal inversions/translocations. It is not appropriate to pursue PGD if the parents have a medical condition but no definitive genetic diagnosis, or if a couple wants to test for non-medical physical traits like hair color or eye color.

There are benefits and limitations to using PGD, and for some couples this is a great option, and for others it is not. For a couple who is already undergoing IVF, the cost of PGD might be justified. However, IVF and PGD is quite expensive, and insurance does not always cover these costs. For some patients, the option of PGD will spare them the difficult decision to terminate an affected pregnancy or continue an affected pregnancy. In addition, there are ethical dilemmas that PGD causes as well.

One major ethical objection to PGD emerges from the need to create and then select embryos based on their genetic status. Some people will view this as “playing God” or having too much control of a child’s fate. Others view such a young embryo as too rudimentary in development to not take control of the child’s outcome. In addition, the unwanted embryos are usually discarded, which also raises ethical questioning. Some people’s religious or moral beliefs raise conflicts against discarding embryos, or even selecting for wanted embryos. However, PGD does prevent selective abortion of pregnancies, which can go against individual’s moral and religious beliefs as well.

While PGD has its advantages and disadvantages, this technique can provide a door for Lynch syndrome patients to remove the burden of passing on their cancer risks to their children. This decision to pursue PGD is personal to each individual family and should be carefully considered in relation to other family members and future children. If a family is considering pursuing PGD, speak with your doctor or certified genetic counselor about receiving more information.

References:

  1. Wu, P., Whiteford, M.L., & Cameron, A.D. (2014). Preimplantation genetic diagnosis. Obstetrics, Gynaecology, and Reproductive Medicine, 24(3):67-73.
  2. Robertson, J.A. (2003). Extending preimplantation genetic diagnosis: the ethical debate. Human Reproduction, 18(3):465-471

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Kendra Frome is currently a Northwestern genetic counseling student. She will graduate in March of 2017 with a Masters degree in genetic counseling. She has experience working with cancer, prenatal, and pediatric genetics. She has a special interest in fertility preservation and techniques for cancer patients, and is currently working on her thesis regarding partner perspectives on fertility preservation. She is originally from Oregon and enjoys spending time outdoors hiking, doing sports, and swimming.


A couple of great new, informative videos about Lynch syndrome are out in English and Spanish. Please click on the links below and feel free to share!


October is Breast Cancer Awareness Month.

If you have:

  • a strong family history of breast cancer or other cancers, especially before the age of 50
  • multiple family members on the same side of family with the same type of cancer
  • bilateral or multiple breast cancers in the same individual
  • both breast and ovarian cancer
  • male breast cancer or other rare cancers
  • Ashkenazi Jewish ethnic background
  • Other cancers associated with hereditary breast cancer syndromes

Please talk to your doctor and ask for referral to a certified genetic counselor to see if Breast True High Risk Panel Testing by Pathway Genomics is right for you. It is a next generation sequencing test that includes deletion/duplication analysis to detect mutations in seven high-risk breast cancer susceptibility genes, including BRCA1, BRCA2, and PALB2. For more information on the Breast True High Risk Panel, please go here: https://www.pathway.com/breasttrue/.

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Recent studies of breast cancer have shown that approximately 70 percent of the mutations identified were BRCA 1/2 mutations. Approximately 4 percent had germline mutations in other cancer susceptibility genes, including high risk genes. These additional high-risk genes include CDH1, PALB2, PTEN, STK11, and TP53. Breast True High Risk Panel by Pathway Genomics analyzes all of these genes.


Please join on us, Thursday, December 1st in Chicago, for an exclusive, one-night only screening of Pink and Blue: Colors of Hereditary Cancer. Following the film, we will hold an informative Q & A session with medical professionals. 

Movie presentation of Pink & Blue: Colors of Hereditary Cancer

An emotional journey that takes us through the lives of women — and men — who are dealing with genetic mutations (BRCA 1, BRCA 2) plus their BRCA related cancers.  We meet doctors and their patients who make tough decisions about whether to have preventative surgeries or not.  Director Alan M. Blassberg tells the story of how hereditary cancer has ripped his family apart and what he must face as a BRCA 2 positive male.  The film highlights the message that men have the same 50/50 chance of inheriting a BRCA mutation as a woman and the lack of this information is deadly.  A higher percentage of men who have breast cancer die from it than women.  Dr. Kristi Funk, Angelina Jolie’s breast surgeon, speaks passionately about the need for awareness and thus, prevention.  We also meet those who ultimately don’t survive but speak with the hope that their passing will help save the lives of others.

For more information: https://www.tugg.com/events/pink-blue-colors-of-hereditary-cancer-ertt

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Yours,

Georgia Hurst

Founder and Executive Director of ihavelynchsyndrome.org

 

Women with Lynch syndrome: Graduate Research Study

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Women with Lynch syndrome — Graduate Research Study

Patient advocacy is, among other things, the provision of information and support to empower patients to confidently take control of their health. While patient advocacy exists in all facets of healthcare, it is especially crucial the realm of hereditary cancer syndromes, where targeted patient education can save lives. Therefore, in order to be the best possible patient advocate, it is extremely important that healthcare providers are meeting the informational needs of this unique population. There is a lot of information to cover with newly diagnosed patients (both those who are diagnosed with cancer and those who are diagnosed through genetic testing): cancer risks, ages of onset, available treatments and therapies, screening strategies, risk-reducing surgery options, cancer genetics, inheritance patterns, referrals to other providers, available patient resources- the list goes on. With so many topics that need to be discussed, I began to wonder if healthcare providers were delivering the appropriate amount information at the appropriate time.

While researching the current literature, I quickly realized that there was a significant gap in knowledge about the informational needs of women with Lynch syndrome. There was very little research regarding the discussion of cancer-related fertility risks, fertility preservation and risk-reducing surgeries with this patient population. It was not clear whether or not patients were receiving enough information about these topics to make informed decisions. This is surprising for a number of reasons. Women with Lynch syndrome are at an increased risk of having colorectal cancer at a young age and the available treatments for this type of cancer can impact a woman’s fertility. For young patients with cancer, there are fertility preservation options available that can reduce the risk of infertility. Women with Lynch syndrome are also at an increased risk for endometrial and ovarian cancer, for which the guidelines recommend consideration of a hysterectomy (removal of the uterus) and a bilateral salpingo-oophorectomy (removal of the ovaries and uterine tubes). Aside from the obvious impact on fertility, these surgeries create a surgical menopause, which can cause a wide range of health problems. Unlike many other hereditary cancer syndromes, Lynch syndrome can be caused by five different genes, each of which have different cancer risks. These differences in risk values are important to be aware of, especially when considering risk-reducing surgeries.

Major healthcare organizations and professional societies have released guidelines recommending the discussion of these topics with women in this patient population. But, there is no research on how healthcare providers carry out these guidelines in their own practice. I also struggled to find any evidence to prove whether or not these topics were effectively being discussed with patients, based on their own report. However, I did find many patient stories, in support groups and blogs like this one, that discussed the overall lack of information received about these topics.  

Clearly evident on her website, Georgia has been tremendously honest and authentic about her experience with Lynch syndrome. She is an exemplary patient advocate, as the posts not only include her personal trials and triumphs but also provide a fountain of information and resources for other individuals living with Lynch syndrome. Her efforts have widespread implications: her sincere encouragement of others to take charge of their health care is empowering, and her frank recounting of her own health journey highlights a need for improved care for patients with Lynch syndrome. A central feature of this improved patient care is the need for better information delivery. I believe that such improvements will be possible if we gain a better understanding of the patients’ perspective, which will allow us to not only identify if current healthcare practices are successful but also identify areas for improvement.

If we don’t recognize the informational needs of our patients, how can we really call ourselves patient advocates? With my research, I hope to understand how women with Lynch syndrome are being educated about their fertility and identify ways to improve those conversations. By learning from your experiences, we hope to gather information that will help doctors, nurses and genetic counselors know how to address this complex topic in women with Lynch syndrome. I invite you to participate in this survey to share your opinions!

Thank you for your consideration.

https://www.surveymonkey.com/r/lynchsyndromeresearch

Yours,

Rachel Hickey

Genetic Counseling Program
University of South Carolina Class of 2017

 

G’s Book Review of The Gene By Siddhartha Mukherjee

G's Book Review of The Gene

G’s Book Review of The Gene

“Human beings are ultimately nothing but carriers — passageways — for genes. They ride us into the ground like racehorses from generation to generation. Genes don’t think about what constitutes good or evil. They don’t care whether we are happy or unhappy. We’re just means to an end for them. The only thing they think about is what is most efficient for them.” – Haruki Murakami 

Sid and I have something profound in common: “Scarcely a day passes in my adult life when I do not think about inheritance and my family, writes Sid.” He has a family history of schizophrenia; I have a strong family medical history of Lynch syndrome and early deaths — we both think about our familial genetics on a daily basis. I fell in love with Sid’s work back in 2013 when I devoured The Emperor of All Maladiesgoo.gl/xGcJLfThe Gene is his latest heroic effort to discuss the history of genetics and the implications that scientific advancements may hold for our genomes.

Sid. Is. Nothing. But. Brilliant.sid

He argues: “… it is impossible to understand organismal and cellular biology or evolution — or human pathology, behavior, temperament, illness, race, and identity of fate — without first reckoning with the concept of the gene.” Having a background in biological anthropology and science I know this, I understand this. Genetic mutations, both good and bad, are necessary for the intricate processes of evolution.

Early on in the book, Sid discusses the pillars of genetics including: the Ancient Greeks, Gregor Mendel, William Paley, Charles Darwin, Charles Lyell, Reverend Thomas Malthus and Alfred Russell Wallace. We are introduced to the father of the eugenics movement — Francis Galton.  Sid discusses history of eugenics and how people, mostly women, who were not deemed normal — ranging from dyslexics, orphans, prostitutes, and schizophrenics — were sterilized. Nazi Germany, along with Josef Mengele’s desire to eliminate “genetic detritus” is discussed. Honestly, I found this to be one of the most macabre, yet fascinating chapters of the book. My husband lost three of his grandparents in Auschwitz — I could not help but wonder if they endured the horrors Sid discusses.

This book is written for the layman but in all honesty, it is dense, deep, and long. Sid’s depth of knowledge and his uncanny ability to synthesize information from various subjects is overwhelming. As an advocate for those with hereditary cancer syndromes, I was happy to read that Sid shares my sentiments regarding inheritance. We inherit more than just our genes with our families — “…bad habits, bad recipes, neuroses, obsessions, environments, and behaviors.” I try to remind people with hereditary cancer syndromes about this all the time — consider the recommended risk-reducing surgeries per your mutation, be vigilant with your screenings, but also consider deviating from your family’s bad habits and behaviors, too. Cancer is the result of “hereditary, evolution, environment, and chance all mixed together,” writes Sid. Like I’ve always said, cancer is complex and a constellation of factors is involved in its development.

A few things more things I found interesting in the book…

  • The word “mutant — a word that implies not just statistical uncommonness, but qualitative inferiority, or even moral repugnance.” With the genetic testing skyrocketing and more people becoming familiar with their deleterious mutation status, this word must stop being used. Whilst we are at it, let’s change the insulting and demeaning language surrounding cancer, too. “Survivor,” “previvor,” “fighting cancer,” “losing the battle,” — medical lexicons — it all has to go.
  • My former professor on Human Sexuality from Northwestern University, J. Michael Bailey, a provocative and controversial figure, is mentioned in the book for his progressive work on homosexuality. Yes, unless you’ve being living in the Mesozoic Era, homosexuality has genetic roots. You may have recalled Professor Bailey in the news five years ago for his after-school sex toy demonstration with a naked woman. Sadly, this after-school demonstration was not offered to my undergraduate class.
  • Thank God for Sid. He does a stellar job of articulating the implications of what it is like knowing you hold a deleterious gene mutation as he hits the nail on the head. “The future of a woman carrying a BRCA1 mutation [or any other hereditary cancer syndrome] is fundamentally changed by that knowledge — and yet it remains just as fundamentally uncertain. For some women, the genetic diagnosis is all-consuming: it is if their lives and energies are spent anticipating cancer and imagining survivorship — from an illness they have not yet developed. A disturbing new word, with a distinctly Orwellian ring, has been coined to describe these women: previvors — pre-survivors … The prophylactic treatments — mastectomy, hormonal therapy — all entail physical and psychological anguish and carry risks in their own right.” This quote reminded me of Paul Kalanithi’s quote: “How little do doctors understand the hells through which we put patients,” from the book When Breath Becomes Air. As a Lynch + female, I greatly appreciate this observation and sentiment — this anguish he mentions was the impetus for me to write about my experience with Lynch syndrome. The great lengths, which we, patients, with hereditary cancer syndromes go through to prevent cancer, are often minimized and disregarded. Much gratitude for bringing this to everyone’s attention, Sid.
  • Genetics are complex and fascinating. Medical advancements and genetic editing technologies are raising complicated ethical and moral questions — and this becomes even more complex across cultures.
  • We must realize and accept that “humans will produce variants and mutants; it’s an inextricable part of our biology … normalcy is the antithesis of evolution.”
  • By the way, even though Sid does not mention this in the book, surely an oversight, men are also at risk for BRCA and other hereditary cancer syndromes. Hereditary cancer syndromes are deemed autosomal dominant meaning that a male or female carrier can pass these deleterious mutations onto both their daughters and sons. Each child of parent carrying a deleterious mutation has a 50/50 of having that mutation, too.

This is a must read for those interested in genetics — I highly encourage all of those who advocate for those with hereditary cancer to read this book.


Did you know ihavelynchsyndrome.org has a Facebook page? Read the latest reviews about ihavelynchsyndrome.org‘s advocacy efforts! https://www.facebook.com/ihavelynchsyndrome/reviews

Gratitude to Pathway Genomics for sponsoring ihavelynchsyndrome.org and its mission! Together we are helping people and saving lives!

To learn more about Pathway, its hereditary cancer products, information regarding genetic counseling, and the genetic testing process, please go to: https://www.pathway.com

pathwayYours,

Georgia Hurst

Founder and Executive Director of the nonprofit: Ihavelynchsyndrome.com

Living with Lynch syndrome: Guest Blog by Elizabeth Cappaert

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My last entry in August 2015 (http://goo.gl/xzW91x) focused on my upcoming hysterectomy and emotional reactions. I mentioned that I was diagnosed with colon cancer in May, Lynch syndrome in June, and endometrial cancer in July. Here, I hope to share in greater detail about what I’ve lost, found and claimed since I first heard “cancer”.

My first cancer diagnosis came in May 2015. After 2 trips to the ER for unendurable abdominal pain, I was finally referred to a GI doctor who scheduled a colonoscopy. I shared my family history of colon cancer, but the doctor seemed convinced that my pain was most likely caused by colitis. After all, at age 32, I was 20 years younger than the youngest person in my family to be diagnosed with cancer – who was an uncle, not a parent. As a result, the doctor put me on a low-residue diet for the month up to the colonoscopy. I couldn’t eat more than about ½ a cup of solid food a day without either vomiting or having horrible pain – broth and sugared sodas gave me enough energy to continue my job as a teacher.

After the colonoscopy, my doctor  explained that a 6 cm tumor was causing my terrible pain and had almost completely blocked my ascending colon. Regardless of whether it was cancerous or not, he would have to remove it soon. All I could say, over and over again, was, “Cancer? But I’m only 32”. Pathology confirmed that the tumor was cancerous and I had 31 cm of my colon removed, as well as my appendix.

While recovering in the hospital, my oncologist recommended testing for Lynch syndrome. I signed the paperwork, had my blood drawn and tested positive for Lynch syndrome.

As I stared at the high chances I had for all types of cancer, I felt my anxiety climbing. When I saw that the suggested preventative treatment for endometrial and ovarian cancer was a hysterectomy and oophorectomy, tears spilled down my cheeks. Single, with no children, my hopes and expectations of one day having a family of my own were blown away by the hurricane of cancer lurking in my genes. Even if I found a man the next day, would I dare risk my child carrying this Lynch syndrome gene?

My oncologist said that as long as everything was fine, I wouldn’t need a hysterectomy for another 8 years and that it was possible to test embryos for Lynch before implantation by using IVF techniques.

I then went to the gynecologist who found a polyp the size of a pencil eraser in my uterus. A polypectomy and D&C were scheduled, and the pathology report came back partially precancerous and showed the beginning stages of cancer. My gynecologist recommended having a hysterectomy and removal of my ovaries, since I had an elevated risk of ovarian cancer.

Shock. Fear. Anger. Grief. Even now, those emotions wash over me. Time seemed to speed by; yet, I was frozen in place. The fear of the cancer returning, worsening, spreading was modeled by a coworker dying from ovarian cancer a year after “beating” breast cancer. I didn’t want to get cancer again, but I was also worried about what would happen after I lost my ovaries. Other than a close friend from college who had walked a similar road with endometriosis, and my newfound online friend, Georgia, I seemed to be the only one so concerned. My oncologist, gynecologist and gynecologic oncologist all seemed more focused on reducing my cancer risk rather than quality of life. So, I moved forward thinking that my reproductive system would not be removed unless I was in immediate, grave danger.

I almost asked for my ovaries to not be removed. Due to my parents’ concern about the risk for cancer, I didn’t. I wept while receiving the anesthetic. There were no complications in the surgery, and my gynecologic oncologist said that my pathology report was completely clear. I smiled and shook his hand, but inside, I was screaming.

I could have waited. I didn’t need this surgery now. I could have kept my girl parts. But there was no going back. My uterus and ovaries were gone – I was sterile and had lost a part of myself that I could never reclaim.

I felt like I had lost my soul on the operating table. I would cry and be unable to stop – sometimes falling on the floor or vomiting from the intensity of my sobbing. I felt dead or that I needed to die. It was only because of Georgia – her bravery in documenting what she went through – that I had any clue that this wreckage that used to be my life was caused by my new hormonal imbalance. With her as an example, I hounded my gynecologist to up my prescription. When my gynecologist suggested that I had enough hormones and just needed to get used to it, I demanded a blood test. The next day I had a larger estradiol prescription. When I asked for a progesterone prescription, as well, my gynecologist wanted me to try a sleeping pill. Only when that pill was found to make me suicidal did my doctor agree to giving me a progesterone prescription. It took about 4 months and a LOT of calls and visits to my doctor to finally get a combination that makes me feel somewhat normal. Even so, I’ve lost about 1 in. in height, have hot flashes and have gained weight. It would be worse without them, though. I doubt I’d be alive.

Since my hysterectomy, I wear makeup more. I’ve grown out my hair. I feel like I’ve claimed my femininity in a new way. To look back and focus on the horror and tragedy of the past year was to die, and I chose to live. For years I’d put off things – no more. While none of us know how much time we have, I figure that if I live long enough, I’m bound to get cancer again. I don’t want to feel like I’m facing death again without being fully alive.

I met the love of my life in December who proposed in February and we were married on the Sunday before Memorial Day – exactly 1 year and 1 day since I got the pathology report confirming colon cancer.

I told him about Lynch syndrome on our first date and it didn’t faze him. He has no children either, but together we hope to adopt, perhaps an older child who would struggle to find a home otherwise. Some might say we rushed things, but why wait when you know what you want? Even more than most, we have to take things a day at a time.

Two weeks after we were married, I had my annual scans and colonoscopy and everything looked good. Thankfully, I don’t need another colonoscopy until next June.

Until then, I live.


Thank you for sharing your story with everyone, Elizabeth and best wishes on your recent marriage!

I could not do my advocacy work and help people like Elizabeth without the generous support of Pathway Genomics.

Pathway recognizes the importance of ihavelynchsyndrome.org’s mission of spreading awareness about Lynch syndrome and filling in the medical gaps for those with it after genetic testing has been completed.

To learn more about Pathway Genomics and Lynch syndrome, please go here: https://www.pathway.com/lynchsyndrometrue/.

Yours,

Georgia Hurst

Founder and Executive Director of ihavleynchsyndrome.com

 

What do BRCA and Lynch syndrome have in Common?

Sexy woman sitting with the back to the camera, showing her hands.

A few years ago, Karen Malkin-Lazarovitz, founder of the BRCA Sisterhood on Facebook, reached out to me and asked me if I would be interested in being an administrator for the group. The BRCA Sisterhood is the largest BRCA Facebook support group for women, with almost 7,000 members – it’s an incredible resource for those who have been recently diagnosed with BRCA and are considering options for how to proceed. Karen’s group includes women from all over the world who share their stories, decisions, and intimate details of their lives. Since I have had my own share of issues following the removal of my ovaries, this group has also been a huge source of support for me. In addition, I have gained tremendous insight into the reality of what life is like when you carry a BRCA gene mutation. It may shock some of you but if I had to pick between BRCA mutations and MLH1 (one of the five Lynch mutations), I would stick with MLH1.

When Karen reached out to me it was because many women in the group who were undergoing genetic testing for BRCA discovered they, in fact, had one of the five known Lynch syndrome mutations. There were also a few women in the group who carried both a BRCA mutation and a Lynch syndrome mutation. Karen, being a stellar advocate, understood the need to have someone with Lynch syndrome as part of the administration team. While cancer risks and implications differ between Lynch syndrome and BRCA, there happen to be many parallels between the two conditions. Many women who carry a mutation in BRCA or Lynch syndrome undergo similar prophylactic measures – specifically regarding the removal of the uterus, ovaries, and fallopian tubes.

However, many BRCA positive women also undergo prophylactic double mastectomies to drastically reduce their risk of breast cancer. Some opt for breast reconstruction with the hope of trying to regain some level of physical normalcy. While these BRCA positive women may be reducing their breast cancer risk by having their breasts removed, many also suffer long-term consequences as a result of their breast surgery or reconstruction. Some women report chronic pain in their upper body, a loss of upper body strength, and/or a lack of sexual sensation in their chest. Some women opt to keep their nipples, others have 3-D nipples tattooed, while others decide to forgo nipples altogether. After my ovaries were removed, I felt highly defeminized–so I cannot begin to fathom how women with BRCA gene mutations who undergo mastectomy feel, specifically those who cannot afford to undergo breast reconstruction, as that would be something very important to me.

Not everyone has access to Angelina Jolie’s breast surgeon or top-notch medical care or can afford to take extended periods of time off of work. Not everyone understands that women with BRCA gene mutations are not simply having “boob jobs.” Women are doing this to save their lives. Mastectomy and breast reconstruction can be a long, arduous, painful process. Plastic surgeons’ skills and aesthetics vary. Just like any other profession, there are those that are great and those that are not so great. A patient can be thrilled with her final results or a patient can be unsatisfied, or even disfigured, which then only brings on a constellation of other problems – financial, physical, and emotional.

The one thing that concerns me deeply is that many women and men with BRCA mutations may know they are carriers and the women are going to great lengths to reduce their breast and ovarian cancer risks but are not being properly screened for other cancers for which they are still at risk. Men can also carry and pass on a BRCA gene mutation to daughters AND sons. Other cancers associated with BRCA mutations include: the pancreas, stomach, colon, melanoma, and the prostate in men. In addition, one in 43 Ashkenazi Jews are BRCA mutations carriers. Unfortunately, many Jewish people have significant medical gaps in their family medical history due to losing their families in the Holocaust and may therefore not have a complete family history, that may have tipped them off to being at increased risk.

For example, it is recommended that screening for colorectal cancer for women and men with a BRCA1 mutation be initiated at an age of 40 years but I have found most BRCA carriers don’t know about this risk for colon cancer. According to Ellen Matloff M.S., CGC and President of My Gene Counsel, “Some studies have suggested that women who carry BRCA mutations are at increased risk for colon cancer, especially if they have a strong family history of the disease, while others show no increased risk. Although national guidelines do not recommend additional colon screening for BRCA carriers, it is recommended that carriers explore their family history for colorectal cancer and, if there is a strong family history and/or cases diagnosed before age 55, speak to their physicians to see if they qualify for additional and/or earlier surveillance.”

More than this, most women who are having genetic testing are not even meeting with a certified genetic counselor; their doctors are not referring them to one. Even if you have undergone the prophylactic surgeries, please be sure to seek out a certified genetic counselor so you may better understand your particular genetic mutation as well as ensure that you are undergoing the correct health screenings. Appropriate health screenings, even after surgeries are still important to maintain your health. This way, if cancer occurs, it may be detected as early as possible when it’s most treatable.

Works Cited:

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

http://oncology.jamanetwork.com/article.aspx?articleID=2445346

http://www.nature.com/bjc/journal/v110/n2/full/bjc2013741a.html

I would not be able to do my advocacy work without the generous support of Pathway Genomics. They recognize the importance of genetic testing, certified genetic counselor, and ihavelynchsyndrome.org’s mission — to save lives through education and raising awareness about Lynch and helping fill in the medical gaps for those who need it the most.

To learn more about Pathways Genomics High Risk Panel for BRCA mutations, please go here: https://www.pathway.com/hereditary-cancer-tests/#brcatrue

Yours,

Georgia M. Hurst

Founder and Executive Director of the nonprofit: ihavelynchsyndrome.org

 

Mayo Clinic Vist 2016

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Mayo Clinic Visit 2016.

I went to Mayo Clinic at the end of May for my annual screenings and many of you on Facebook and Twitter asked that I share my experience. Mayo Clinic in Rochester, Minnesota has doctors who know about Lynch syndrome – they know which screenings and tests are needed for specific mutations — I cannot recommend them enough. I am confident I am receiving the best care possible there and encourage others with Lynch to go there as well. You may have all your screenings and tests done within a matter of a few days by doctors who are well versed in Lynch syndrome protocols. Please note there are financial assistance programs available at Mayo for those in need.

My mutation is MLH1 and the following tests and consults were recommended for my particular mutation, my family medical history, and my personal needs: a blood test, urine test, mammogram, bone density scan, endoscopic ultrasound, colonoscopy, upper endoscopy, gynecological consult, an urogynecological consult, and a dermatological consult.

I met with my nurse Sheila Buhler. She and I went over my health for the past year. I complained of lethargy, nausea, and anxiety – all of which I attributed to my recent scanxiety. Sheila listens to me and doesn’t discount or minimize anything I tell her.

If you have had your ovaries removed and are feeling lethargic, I highly recommend going to the Women’s Clinic at Mayo. They completed a full assessment and blood test. Even though I am on a hormone replacement patch, Mayo found that my estrogen level is at a level comparable to someone not taking any estrogen. They increased my HRT dose and recommend I place the patch on my butt (over a muscle) instead of on my abdomen. I found this very disheartening and cannot imagine how many other women are in comparable positions suffering in silence simply because their hormone levels are not being properly assessed.  

Every since my hysterectomy and oophorectomy five years ago, I have noticed that my bladder is not emptying, or voiding, completely. I was seen by urogynecology and diagnosed with pelvic floor tension myalgia — physical therapy has been recommended to remedy this. I am pretty sure that I am not the only woman experiencing this and that is why I wanted to share. Please talk to your doctor if you feel you are having issues with your bladder after your hysterectomy and oophorectomy.

During my scopes, a small 2-mm gallbladder polyp was found along with a 7-mm gallbladder stone – neither were removed. Prior to my visit to Mayo, I had been suffering from a high level of anxiety and was nauseated for over a month. My endoscopy showed that I have Barrett’s esophagus. The high dose of aspirin I take on a daily basis, coupled with anxiety is probably partially responsible for this. It was recommended that I take omeprazole and Pepcid® for the next few weeks and that I learn to manage my stress better.

A pic of my colon...

A picture of my colon.

Usually it is recommended for those with Lynch to have a chromoendoscopy in order to detect the flat polyps, for which we are at risk. My scope revealed a small, flat colon polyp, which was removed and biopsied – thankfully it was detected and it was benign.

My gallbladder indicated a 2-mm mucosal polyp, as well as a 7-mm gallbladder stone. Those will continue to be monitored. My dermatologist removed a 5-mm mole from my central abdomen, which was also found to be benign. I also had my first bone density test (a very easy test, all you do is lie on a table for a few minutes) and found out some good news! I do not have evidence of osteopenia or osteoporosis at this time.

I was there for a total of four days – I had all my tests done within a short amount of time by doctors who know their stuff. My scanxiety is gone. Gone. Gone!

I am still a previvor at 45, no cancer. Frequent, meticulous screenings are absolutely imperative for those of us with Lynch syndrome and unfortunately only about 30% who know we have Lynch syndrome are being monitored properly. This saddens me tremendously because people are either developing cancer or dying unnecessarily from Lynch syndrome related cancers. 

Our next #Hcchat is coming up on June 29th at noon EST on Twitter! We are honored to have Dr. Vince DeVita as our special guest; he is an internationally recognized pioneer physician in the field of oncology. We will be discussing everything you need to know about the #Moonshot!

Gratitude to Pathway Genomics®! Thanks to them I was able to attend ASCO in Chicago soon after I returned from Mayo and had the pleasure of meeting some of their great staff and learned about recent advancements in oncology.

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Gary and me at ASCO16.

Immunotherapy was all the rage at ASCO. If you’re interested in learning more, Dana Farber has done a stellar job of putting all the major takeaways together from ASCO.

If you’re considering genetic testing, ask your genetic counselor or doctor about Pathway Genomics LynchSyndromeTrue. It is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes the deletion/duplication analysis for these four genes as well as the EPCAM gene. Please note, there’s only a two-to-three week turnaround time, both blood and saliva are accepted, Pathway Genomics has a patient-friendly billing policy, and they have options for larger gene panels if needed. Pathway Genomics is deemed accurate and reliable by the College of American Pathologist’s (CAP) Laboratory Accreditation program. CAP accreditation assures compliance with the most comprehensive laboratory standards to maintain accuracy of test results for patients. Find out more about  LynchSyndromeTrue.

And most importantly? Pathway Genomics is involved in the #FreeTheData movement which is going to become more crucial than ever with the Precision Medicine Initiative and Biden’s Moonshot. Learn more during our upcoming #Hcchat on #FreeTheData.

Yours,

Georgia M. Hurst
Founder and Executive Director of the nonprofit: ihavelynchsyndrome.org

Living With Lynch Syndrome, One Year On…

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Kristen Lummis with her sons…

Living With Lynch Syndrome, One Year On. Guest Blog by Kristen Lummis

On May 29, 2015 I received a life changing phone call. It was from a physician sharing the results of a recent biopsy. “Mrs. Lummis,” he said in a too-soothing voice. “Are you okay to talk on the phone?” With those words, I learned I had cancer.

Family Matters

Early onset colorectal cancer is rife among my maternal relatives. Based on this history, I had my first colonoscopy at age 40. A few years later, a small town Colorado doctor pieced our stories together and suggested that my mother and aunt have genetic testing for Lynch syndrome, or, as it is sometimes known, Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Both my mother and my aunt declined to be tested. Neither of them had a personal history of colorectal cancer, so they assumed they dodged the mutation. So did the rest of us. And then my cousin’s son was diagnosed with colon cancer at 23. My cousin and her five children were tested. They are all positive for a Lynch mutation.

With Lynch syndrome confirmed in our family, I had a talk with my primary care doctor. To ease my concerns, she suggested biannual colonoscopies. Genetic counseling and testing were discussed, but ruled out unnecessary. Unfortunately, we focused on the CC in HNPCC and didn’t discuss any other Lynch syndrome cancers, including the high risk of endometrial cancer. This is one of the biggest problems Georgia deals with every day – people are not seeing certified genetic counselors who can help them assess their cancer risks and thoroughly understand their specific mutation. Certified genetic counselors can also let you know which surveillance measures are warranted to prevent, or at the very least, detect cancer at its earliest stages when it’s most treatable.

Head In The Sand

Looking back it’s easy to see where I went wrong. I grew with a mother who rightly feared cancer and unknowingly passed onto me a genetic mutation which became too much to bear. Therapy in my early 40s helped a lot, but it also predisposed me to ignore any but the most extreme medical symptoms. I didn’t want to live or to raise my two sons with fear. Rather than take charge and research Lynch syndrome, I put my head in the sand and assumed my body my body would let me know when something was wrong. And sure enough it did. In May 2015, I went to the doctor after two months of intermittent vaginal bleeding. While I assumed it was perimenopausal, it set off major alarms and I was rushed through the diagnostic process. Just 20 days later, I checked into the Mayo Clinic for a complete hysterectomy to remove endometrial cancer. While in Minnesota I also met with a genetic counselor and geneticist. A week later, I received a phone call from Rochester. It was THE geneticist and another “Mrs. Lummis” moment. And thus, I learned I had Lynch syndrome.

A Hard Diagnosis

That day, June 17, 2015, was pivotal. While I thought that a cancer diagnosis was hard to swallow, confirmation of a genetic mutation that can cause multiple cancers was even harder. Intellectually, I already knew my fate. Lynch was the best explanation for my atypical endometrial cancer. But until I heard the words, I had no idea how dramatically a Lynch syndrome diagnosis would rock my world. And while I’d never suggest that my experience is universal, I’ve learned a lot in 12 months, some of which I’d like to share.

Lessons From Lynch:

Get tested. If Lynch syndrome is in your family or you suspect it might be a factor, seek a referral to a genetic counselor ask your doctor for one or go to nsgc.org to find one near you. Don’t let your doctors talk you out of it. If you have a Lynch mutation, it’s better to know. If you don’t have a mutation, it’s better to know. Just because your parent hasn’t had cancer, doesn’t mean he or she does not have Lynch syndrome.

Lynch syndrome is more than colorectal cancer. While some doctors still refer to Lynch syndrome as HNPCC, be aware that the mutations can cause other cancers. An annual colonoscopy is not enough. A knowledgeable doctor will prescribe other screenings and talk to you about symptoms you should not ignore. The risk among some women with particular Lynch syndrome mutations is especially high for endometrial cancer and ovarian cancer. Any irregular bleeding should immediately send you to your doctor.

Seek out the best care. Find a physician who knows Lynch syndrome inside and out and keeps up with the latest research. This person will become your quarterback, directing your annual screenings and ensuring that the latest medical findings are applied to you. My cancer was treated at the Mayo Clinic and in August I will do my first round of annual screenings there. Another friend with Lynch syndrome is cared for at Stanford, while another is a patient at MD Anderson in Houston. Many of these fine medical institutions offer financial assistance for those in need.

Do some research. Find the best doctors. Check your insurance. Provide the best care you can for yourself. You and your family deserve it.

Reach out to Georgia if you need help with any of these things.

Give yourself a break. A Lynch diagnosis can be especially hard to take if you have children. Remember, if they eventually test positive it is not your fault. You didn’t give them this disease. They inherited it from you, as you did from your parent. There is no one to blame.

Control what you can control. While you can’t rid your cells of mutations, you can control what you put into your body, mind and soul. Take the best care of yourself that you can. Feed yourself wholesome, healthy foods. Focus on the current day. Surround yourself with supportive people. Build your body in strength and fitness.

Seek psychological counseling if necessary. I’ve struggled emotionally. I had an unexpected second surgery in early November, which totally knocked me down and by spring, I was a wreck. As the anniversary dates of both of my diagnoses drew near, I was paralyzed with unresolved grief, fear and anger. I turned to therapy and with the help of my caring counselor, who is also a cancer survivor; I’m allowing myself to grieve. Although it’s an overused word, this year has been truly been a journey. I’m hoping that as the earth makes its bend around the sun into my second year, the journey will look brighter and be a bit easier.

Kristen Lummis is a freelance snowsports and travel writer based in Western Colorado. In addition to writing for websites and magazines, she has an award-winning family skiing and outdoor adventure website, braveskimom.comShe and her fantastically supportive husband James have been married for 25 years. They have two nearly grown sons and one quite elderly, but still spirited, dog.

 

 

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