How Genetic Testing Can Eliminate Elevated Cancer Risk Mutations From Your Child’s Future

When I was twenty-three, my dad—my best friend—shared the heartbreaking news that he was diagnosed with highly aggressive metastatic prostate cancer. I was crushed. He was young; just fifty-eight and hadn’t experienced any major health problems previously. His cancer was fast-moving, aggressive—it was a short six months from symptom-onset to a Stage IV diagnosis. How, I thought to myself, could this happen?

Genetic counseling—and subsequent genetic testing—provided the answer.

What is genetic counseling?

Genetic counseling helps individuals evaluate their personal risk for cancer or other genetic disorders. Genetic counselors collect information on personal and family history to determine whether genetic testing might be useful, and then recommend which genetic test (if any) should be performed. After genetic testing, a patient meets with the genetic counselor to review their results, understand their risk profile, and discuss possible next steps.

What is genetic testing?

Genetic testing is a way to determine if someone carries a genetic mutation. It is typically a blood test that uses DNA analysis to determine if there are mutations to cancer susceptibility genes. A positive result indicates that one carries a known harmful variant (pathogenic variant) gene mutation, and a negative result means that one does not. It’s also possible the test identifies gene mutations that aren’t yet classified as cancer risk variants, leading to an ambiguous result.

A positive result has important implications on the carrier, their family, and their child(ren).

Thanks to the guidance of my dad’s oncologist, he underwent genetic testing, and we learned that he carries the BRCA-2 gene mutation. High-risk cancer-causing mutations like BRCA (1 and 2) are hereditary germline mutations, meaning that a parent has a 50-50 chance of passing the gene mutation to their child. Shortly after my dad’s BRCA-2 diagnosis, his oncologist recommended that I, too, get testing. Several weeks later, we learned that I, too, was positive; that I carry the BRCA-2 gene mutation.

What are high-risk cancer-causing gene mutations?

High-risk cancer-causing gene mutations are mutations of tumor suppressor genes. When one of these genes is altered, the individual can be at an increased risk for cancer. More than 100 gene variants are associated with an increased risk of breast, prostate, and ovarian cancer.

I have the BRCA-2 mutation, which gives me an 87% lifetime risk of breast cancer, a 30% lifetime risk of ovarian cancer, and elevated risks of pancreatic and melanoma cancer. Although everyone’s risk profile is different, BRCA 1 and 2 carriers are at increased risk of breast, ovarian, prostate, pancreatic, melanoma, peritoneal, fallopian tube cancer and more.

Even though I was just twenty-three, my diagnosis had important implications for me—and for my future family. My future children.

Alongside other preventative steps that I could take to reduce my risk of cancer (a preventative double mastectomy and a preventative oophorectomy, among others), my genetic counselor introduced the notion of in-vitro fertilization with preimplantation genetic diagnosis.

What is preimplantation genetic diagnosis (PGD)?

In the context of fertility, preimplantation genetic diagnosis (PGD) can be performed before embryo transfer to determine whether the embryo carries the mutation in question. The embryo is biopsied, and the collected sample is then sent off to a lab for genetic testing. Embryos that haven’t inherited the gene mutation are then implanted when the parent is ready to get pregnant.

After I learned that PGD was an option, the overwhelming anxiety that I felt about carrying the BRCA-2 mutation lessened. The knowledge that I wouldn’t have to pass on this mutation to my future child(ren) was not just empowering, but a relief. Hopefully, my child(ren) won’t have to go through the intrusive, exhausting, time-intensive, financially draining, and anxiety-provoking preventative surgeries that I did. And hopefully, they’ll never get cancer.

Who should get genetic testing?

If you or your family has a history of cancer, genetic testing can be a helpful tool to determine if you might have an elevated cancer risk. Genetic testing can be an empowering option by allowing you to make informed, proactive decisions about your health—and the health of your child.

Personally, I have watched my father and his mother, my grandmother, battle cancer, and have seen first-hand how cancer can ravage lives. By performing PGD on my embryos, I hope to do my part in helping my future child(ren) live healthier, cancer-free lives.

PGD is an enormously valuable resource for those of us living with chronic, hereditary conditions that affect every aspect of our lives. We can end generations of hereditary disease—trauma!—with the science of IVF and PGD, and I couldn’t be more grateful.