What Happens After Genetic Testing? A Podcast Illuminates a Challenging Road

January 7, 2020 by Eleanor Griffith

By Beth Fand Incollingo

Genetic testing and counseling can mark the beginning of a challenging journey.

After counseling, people with a hereditary predisposition to cancer or another disease might need to begin intensive lifetime health screening, start a new medication or undergo preventive surgery, such as removal of the breasts, ovaries or stomach. They might be sick, or they might become sick. And then there are thorny questions about whether, how and when to inform relatives that they, too, should be tested for genetic mutations.

As the founder of Grey Genetics — through which she and other experts offer genetic counseling via telehealth — Eleanor Griffith is familiar with the beginning of that road, but less so with the bumps that arise along the way. That’s one reason she launched a podcast that allows her to interview people who have lived with genetic conditions, sometimes for years.

“Genetic counselors have told me they really get a lot out of it, and I do, too,” said Griffith, whose podcast is posted online every other Tuesday. “They’re really hearing more from patients than they have been, since they don’t usually get the whole narrative context about how this impacts patients longer-term.”

But the larger goals of the podcast that launched in April 2018 are to allow patients to tell their stories — which also helps them work through their feelings about their experiences — while informing others who are walking in their shoes about what might lie ahead.

“The most gratifying thing was someone who’d reached out wanting to be interviewed about having a child with a rare genetic condition,” Griffith said. “After the interview, a few weeks later, she said that two other families had gotten in touch with her because of the podcast. So many patients are connecting in Facebook groups, but these two families did not want to be on social media, yet still wanted to be in touch with other families dealing with the same condition. I love knowing that the podcast helped make those connections.”

A Variety of Conditions Discussed

Among the non-oncologic conditions patients or their parents have discussed on the podcast are cystic fibrosis, Tay-Sachs disease, Huntington’s disease, fragile X syndrome and sickle cell anemia. Pancreatic, colon and ovarian have been among the cancers discussed. But “the most common genetic condition we’ve covered is BRCA gene mutations, partly because they affect so many people, and also because there’s so much awareness out there about them,” Griffith said. “People with BRCA mutations reach out and want to share their stories.”

She noted that “every BRCA story is still so different, depending on where they’re coming from and at what point in life they got their diagnosis.” As a result, hearing their varying perspectives can be helpful to others who have such mutations and are making decisions about their care. “I interviewed someone who didn’t have trouble getting connected to medical resources,” she added, “but in making decisions about surgeries was looking online for the stories of patients who faced decisions or situations similar to hers and was having trouble finding them.”

Over time, Griffith hopes to interview people with other genetic mutations that drive breast cancer, such as PALB2, CHEK2 and ATM. It will be important to share patient stories related to these genes because there is less awareness about them, she said.

“Lynch syndrome (which predisposes carriers to colorectal, endometrial and other cancers) is another inherited syndrome that’s just as common as BRCA and gets a lot less attention,” she continued. “I’ve only done one interview with someone who has Lynch syndrome, but others are coming up soon. So many people have heard of BRCA, and physicians are more likely to be familiar with it, but it’s Lynch syndrome that gets that blank look, and physicians are not necessarily asking whether someone is appropriate for testing.”

Not a single patient Griffith has interviewed has been someone who received counseling at Grey Genetics. Rather, the interview subjects have been people she worked with in previous settings or learned about when they told or wrote their stories in public forums.

Most have been aware of their genetic mutations for a long time: Sometimes people need a few years to live with knowledge of a genetic mutation before discussing the issue in an interview, she said. “On the other end, I’ve interviewed women four or five months after they lost newborns to really awful genetic conditions, when it feels so raw,” she said. “I’m not sure if that’s something coincidental or reflective of how differently these conditions affect people.”

Starting a Conversation with Children

Less emotional, so far, have been discussions about how people disclosed inherited syndromes to family members who also might have been at risk. There may be dramatic stories out there about sharing the news with relatives, but Griffith hasn’t heard them yet. She guesses that’s because most of the people she’s interviewed have been parents to young children and have not yet fully explained that a health condition can be passed down from generation to generation.

“A lot of the time, the discussion was more around recovering from surgeries. One 2-year-old didn’t understand why her mother could not pick her up,” Griffith said. “One woman had twin girls who were 10, old enough to understand that their mom was sick and going to the hospital to have surgery, but too young to talk about hereditary implications. A woman I interviewed recently had kids who were 12 and 15, and they were old enough to have some appreciation of it. She and her husband were concerned about sharing that she’d been found to have the BRCA mutation and was going to have a prophylactic mastectomy and hysterectomy to reduce the risk. Her kids said, ‘Seems like that’s a good thing for you to do. What are we having for dinner?’”

Another woman had her testing and surgeries before her daughter was old enough to understand, but when Angelina Jolie underwent her prophylactic surgeries, the girl asked some questions. The mother responded with a simple explanation that was in keeping with her daughter’s developmental stage.

“I haven’t heard many stories yet where a child had a really hard time with it,” Griffith concluded, “but it might be different if you’re talking to patients with 17- to 20-year-old daughters.”

Griffith invites those affected by hereditary gene mutations to consider telling their stories on her website, either on the podcast or in essays. She’s especially interested in sharing the experiences of people with mutations that are less publicly recognized, and would also like to interview a more ethnically diverse group of previvors, patients, survivors and parents.

“Some people, maybe the majority, never want to share their story, and that’s completely fine,” Griffith said. “The idea is to have a platform for people who want to do this, which can also be helpful to those who want to keep things more private.”