Get back on track with health screenings

In the height of the pandemic, many people pushed routine health screenings to the side. Now, healthcare professionals say it’s time to make up for lost time.

Getting a colonoscopy, mammogram, Pap smear, or CAT scan of the lungs can pick up cancer at an early, more treatable stage–but during the pandemic, “many patients might not have had contact with their doctor,” said Dr. Gershon Locker, MD, FACP, a medical oncologist who has been on the Norton & Elaine Sarnoff Center for Jewish Genetics board for 20 years. “If you haven’t seen your doctor for your routine exam, it’s time to see your physician and discuss what you’re due–or overdue–for.”

Of particular interest to Ashkenazi Jews is the BRCA gene. Whereas 1 person in 400 members of the public has an abnormal BRCA gene, an abnormal gene manifests in 1 in 40 Ashkenazi Jews–a tenfold difference.

Having an abnormal BRCA gene increases the rate of getting several cancers during one’s lifetime. For example, Locker said, a woman without any BRCA mutations has about a 13% lifetime chance of getting breast cancer; a woman who has a harmful BRCA-1 mutation has a 60% chance, and BRCA-2 gives a 45% chance.

“Women with and without BRCA mutations should be getting mammograms and there is data that women haven’t been, during COVID,” Locker said. “While breast cancer doesn’t grow like wildfire in general, skipping an annual mammogram for two years increases the risk of it being more advanced when detected.”

People with an abnormal BRCA gene also have a much higher risk of developing ovarian, prostate, pancreatic, and colon cancer. Missing routine screenings for these types of cancer–even if a person is unaffected by a BRCA mutation–can have long-term implications.

“If you didn’t get your scheduled screening during the two years of COVID and there was cancer there, it had two years to grow,” Locker said. “Screen now if you missed appointments during the pandemic!”

In addition to cancer, Ashkenazi Jews are predisposed to certain genetic disorders that can occur in 1 in 4 unintervened pregnancies where both parents are carriers. For many people, learning about the risk of these and other genetic disorders is an important part of family planning.

“The ideal time for carrier screening time is pre-conception, as this gives people the most options for building their family,” said Melissa Damrongvachiraphan, MS, CGC, a genetic counselor at the Sarnoff Center for Jewish Genetics. Although this type of screening is usually recommended by an OB/GYN or internist, many people postponed regular appointments with these doctors when the risk of contracting COVID-19 was higher.

Even the Sarnoff Center for Jewish Genetics–which offers an online, on-demand genetic carrier screening program–experienced a steep decline in interest at the height of the pandemic. Numbers of participants have continued to grow as people adjust to the new normal.

“With the information from carrier screening, some individuals may decide to conceive naturally and do prenatal diagnosis; other couples wait and test at birth. Some do IVF, where we can test the embryos,” Damrongvachiraphan said, “and some people may use an egg or sperm donor. Some may choose not to conceive and adopt. That’s why it can be so helpful to get this information beforehand, so people can decide which route they want to take and not be surprised, which used to happen a lot at birth.”

Even if prenatal genetic tests were missed during the pandemic, there is still an opportunity to screen during pregnancy to put minds at ease. And, although many people are carriers for at least one genetic abnormality, carrier couples–couples who share the same genetic mutation and can pass it on–are far rarer.

“With this information, this can be one less thing on a person’s plate when they’re deciding to conceive,” Damrongvachiraphan said.

For more information about carrier screening or to connect with a genetic counselor, visit jewishgenetics.org. Consult your doctor about any tests or screening you may need.