In search of answers: Genetic counseling after family loss

Beca Tomcho’s younger sister was only 35 when she was diagnosed with pancreatic cancer, one of the deadliest types of cancer and exceedingly rare in younger adults. She died 16 months later.

In addition to the tragedy of losing a loved one, Beca and her family were left wondering: Are we at risk of pancreatic cancer, too?

Since Beca’s sister’s death in 2011, there have been significant advances in genetic testing for pancreatic cancer, allowing Beca and her family members the possibility of finding an answer to that crucial question. In 2022, Beca decided to revisit genetic counseling after a relative underwent testing and discovered she was positive for a mutation in the PALB2 gene, which increases the risk of pancreatic, breast and ovarian cancers.

Beca, a Sharp Rees-Stealy Medical Group patient for over 25 years, asked for a referral to an oncology genetic counselor. She met with Meera Clytone, MS, a licensed certified genetic counselor with Sharp, who offered knowledge and compassion in the face of uncertainty.

"In that video session, it felt like I wasn’t alone,” says Beca. “Meera guided me through the options with such understanding. I am grateful that the testing was available, and everyone at Sharp was incredibly accommodating and helpful during this journey."

The crucial role of cancer genetic counseling

The value of cancer genetic counseling becomes especially pronounced in the context of early detection and prevention. Armed with insights into genetic predispositions, patients can make informed choices about screenings and surveillance.

Like her relative, Beca also received a positive result for the PALB2 gene mutation. Clytone guided Beca through her options, addressing questions about the concerns related to a positive result and possible preventive measures.

“I obtained clarity on various aspects, such as what a positive result means for me, my children and my future,” says Beca. “I learned how to communicate this information to my kids and support them through testing as young adults. Additionally, I received guidance on potential surgical options.”

Beca left that session feeling heard and supported. She then underwent a blood test, abdomen MRIs and an X-Ray and met with an OBGYN, a gynecological oncologist and others to review her options.

One preventative measure available for women with a positive PALB2 gene mutation is a double mastectomy. But Beca felt confident in the advanced breast screenings she would receive at Sharp and decided not to pursue that option at this time. For ongoing monitoring, she will now receive breast MRIs and mammograms on a rotating basis every 6 months.

However, due to the higher incidence of ovarian and uterine cancers in women with the PALB2 gene mutation, she decided to have a hysterectomy earlier this year.

“Testing positive and then having a host of tests and appointments was overwhelming," Beca says. “But I felt confident and secure in my surgical decisions, and relieved that I could take control to manage what could have been some potentially scary future diagnoses.”

Care beyond genetic counseling

Clytone is one of several oncology genetic counselors at the Cancer Centers of Sharp. She and her colleagues help decode the language of genes and translate it into actionable steps for patients and their families. All of Sharp’s genetic counselors have master’s degrees and special training in cancer genetics.

At its core, cancer genetic counseling provides a roadmap for individuals navigating the complexities of their genetic makeup. It's a tool for understanding the possible effects of inherited conditions, particularly in the context of hereditary cancer syndromes. By exploring personal and family histories, genetic counselors identify the potential genetic risks and guide patients through the maze of information.

One of the most compelling aspects of cancer genetic counseling lies in its ability to transform fear into informed decision making. If you have a family history of cancer and are concerned about an increased risk for cancer, genetic counseling may help. It offers a tailored approach to understanding how inherited conditions may impact not just you but also generations to come.

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