A Personal Story from Our President and Founder’s Daughter

Despite having a sister who passed away from melanoma, Sam Guild was originally directed to genetic testing because of her mother’s ovarian cancer.

“Genetic testing was initially suggested to me after my mother was diagnosed with ovarian cancer,” Sam said. “It was suggested that I get tested to see if I had any genes that would put me at high risk for ovarian cancer. But once they understood that my sister died from melanoma and that I had other cancer in my family, I ended up doing a whole panel to see if I had mutations that would put me at risk for other cancers.”

When the genetic testing results came back, one of the things she learned was that she had a mutation that puts her at high risk for melanoma.“I already knew I had many risk factors for melanoma. But the testing confirmed I had a familial risk.”

Only a fraction of melanomas are categorized as familial, meaning that the disease was genetically inherited from relatives. Inheriting a gene that causes melanoma occurs in fewer than 10% of all melanoma cases, and it’s different from simply inheriting risk factors. For example, if your mother had very light skin, and you have very light skin, you’ve inherited a risk factor for melanoma. And if your father has blue eyes, and you have blue eyes, you’ve inherited another risk factor for melanoma. But a mutated gene that is passed on from one family member to another is something coded into your DNA. You cannot see this mutation and may have no idea whether you or other family members inherited it.

Why Do Genetic Testing

Wanting to understand one’s genetic makeup is a primary reason for seeking genetic testing, especially among adopted children who may have little information about their background. Others, like Guild, may get testing to help guide their health care and personal decisions. “If you have a gene that puts you at higher risk for a particular cancer, you could change certain behaviors,” she said.

Guild’s late mother, Valerie, started the AIM at Melanoma Foundation after her daughter, Charlie, was diagnosed with metastatic (Stage IV) melanoma in her lungs at only 26 years of age. Charlie died from the disease not long after her diagnosis. Valerie promised to do everything she could to educate others about melanoma, including about prevention and early detection.

Since her sister’s death, Sam says she has been very attentive to her skin and regularly schedules skin checks with her dermatologist. But this new information about her genetics has compelled her to be even more vigilant about early detection.

“My dermatologist and I live by this mantra: If a skin lesion is potentially precancerous and could turn into a skin cancer – remove it.”

For those individuals who have already been diagnosed with cancer or survived cancer, there is a fear of reoccurrence. Having more information about their inherited risk may help them make decisions. For example, they may decide to enroll into a clinical trial or set up an advanced care plan for themselves.

Also, knowing whether a familial gene exists can help other family members. Sam has a sibling and two children. She has shared her results with her sibling and will share her results with her children when

they’re older. “Testing gives individuals information to share with their loved ones. Then, those family members have the information to make informed decisions about their own care, such as being vigilant about early detection or getting their own genetic testing,” Sam said.

The Limitations on Genetic Testing

Testing to determine whether a gene exists that could increase the risk of cancer is not for everyone. In fact, The American Society of Clinical Oncology (ASCO), the largest group of physicians treating people with cancer, has three recommendations about when and whether to offer genetic testing to an individual.¹ In order for a provider to offer genetic testing, the individual should have 1) a strong family history of cancer with an early age of onset (i.e., younger than 40 years of age); 2) resources to accurately interpret test results; and 3) the ability to use the results for medical management of the individual or family.

One concern that physicians and others may have about testing just anyone is that identifying genes that may increase the risk for cancer can come with a psychological and emotional toll. For some people, the potential anxiety that comes along with knowing their genetic predisposition to cancer may outweigh any benefit of this knowledge—because often there is nothing a person can do with the news beyond surveillance. Knowledge, without any tangible way to improve the situation, may cause undo anxiety.

“I don’t have a high sense of fear, but if it’s possible, I am now even more careful about my skin and my kids’ skin,” Sam said. “For example, I always avoided the sun, but I avoid it even more now.”

Other Factors to Consider

In the U.S., Congress passed a law against discrimination for health insurance or employment based on the results of a genetic test.² This was called the Genetic Information Nondiscrimination Act. It also prohibits disclosing genetic information without consent.³

But life insurance underwriting was not included in the Genetic Information Nondiscrimination Act. Congress left states to decide whether to enact protections on consumers to limit the use of genetics for life insurance companies providing coverage, premiums, and variable costs.⁴ Therefore, some states have set limitations, and others have not.⁵

One consideration, then, if you’re interested in genetic testing, may be whether your state allows your results to be factored into life insurance plans. Depending on the results, there could be coverage and premium consequences.

If you’re interested in genetic testing, ask your doctor about your options.

For Sam, the genetic results confirmed that her vigilance is exactly what’s needed. “With my sister’s death, and my light skin, blue eyes, and very mole-y skin, my dermatologist and I were already very attentive to my skin. The testing reaffirmed that our vigilance is warranted.”

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References:

1) American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21(12):2397-406. doi: 10.1200/JCO.2003.03.189.

2) U.S. Congress. THE PUBLIC HEALTH AND WELFARE. CHAPTER 21F-PROHIBITING EMPLOYMENT DISCRIMINATION ON THE BASIS OF GENETIC INFORMATION. Updated 12.29.24. Accessed 12.30.24. Available at: https://uscode.house.gov/view.xhtml?req=(title:42%20section:2000ff-1%20edition:prelim)

3) U.S. Congress. THE PUBLIC HEALTH AND WELFARECHAPTER 21F-PROHIBITING EMPLOYMENT DISCRIMINATION ON THE BASIS OF GENETIC INFORMATION. Updated 12.29.24. Accessed 12.30.24. Aailable at: https://uscode.house.gov/view.xhtml?hl=false&edition=prelim&req=granuleid%3AUSC-prelim-title42-section2000ff-5&num=0&saved=%7CKHRpdGxlOjQyIHNlY3Rpb246MjAwMGZmLTEgZWRpdGlvbjpwcmVsaW0p%7C%7C%7C0%7Cfalse%7Cprelim

4) Yanes T, Tiller J, Haining CM et al. Future implications of polygenic risk scores for life insurance underwriting. npj Genomic Medicine. 2024;9(25). https://doi.org/10.1038/s41525-024-00407-x.

5) Rothstein MA. Time to End the Use of Genetic Test Results in Life Insurance Underwriting. J Law Med Ethics. 2018 Sep;46(3):794–801. doi: 10.1177/1073110518804243.