Where are genetic counselors in the diagnostic process?

Robert Kolker’s July 23 Times magazine article, “The Vanishing Family,” is about a large Irish Catholic family with the gene for frontotemporal dementia (FTD). FTD (which gained some notoriety this year after Bruce Willis’s family announced he had been diagnosed with it) is a devastating disease; those affected can start to show signs of dementia as young as forty. In focusing on a large family, Kolker had the opportunity to show the full range of decisions people make after finding out that they have a genetic disease (or even that they could have one). Out of the nine adult siblings, five of them have active signs of FTD. Each of those five siblings already had children of their own by the time they learned of FTD. 

I was particularly interested in C.’s story. C. was in her mid-twenties when she found out her mom’s severe neurological issues were actually a form of dementia. She decided to wait five years to be tested:

When C. turned 30, she had a boyfriend, a serious one, whom she told about the risk of FTD almost as soon as they started dating several years earlier. Now they were engaged. She went through with her plan to find out the truth. “I wanted him to have the choice to opt out if he didn’t want to deal with me,” she said.

They were together when she learned the news. Her boyfriend held her hand, no words passing between them. “I remember even the genetic therapist saying: ‘You guys are just, like, such a great couple. I’m so sorry I have to tell you this.’”

Six years later, after four unsuccessful rounds of PGD and IVF, C. found out she’d become spontaneously pregnant. 

She was 36, and after four attempts, it felt a little like now or never. With everything she had lived through and everything that was coming, she believed that good fortune was too precious to turn her back on. Who’s to say what other parents may be passing along to their children, genetic risks they don’t know about and that no one can test for? And more broadly: Isn’t she allowed to want this for herself? Doesn’t everyone have the right to a family?

The comments were predictably harsh:

“In the end, FTD is worse than HIV (which is treatable). Exposing someone to HIV can be a criminal act, so isn't it arguable that each family member should know if they posses [sic] the gene and if so to inform any and all partners? Anything less is a violation of someone else's rights.”

“Those who knew they had covid yet still vetured [sic] out into society were rightfully scorned for their selfishness. What “C” did was no better.”

“50/50 chance of a horrible disease, don't have kids-get a dog.”

I’m in a Facebook group for people with tuberous sclerosis. The group is heavily Christian and, given the randomness of TSC, more reflective of American society at large than the Times comments section. Every so often IVF comes up, and here, I have been surprised by the casualness with which people choose to pursue spontaneous pregnancy, knowing that their child would have a 50% chance of inheriting tuberous sclerosis and that even if they have a mild case, that doesn’t mean their child would. Although I have brain tumors and kidney tumors, they haven’t caused me much trouble so far and I fall into the “mildly affected” category of patient. But I have often imagined trying to justify a spontaneous pregnancy to a child who suffers from intractable epilepsy, cardiac tumors, and degenerative lung disease. 

If I ever become pregnant, it will likely be via IVF; this is the choice the NYT commenters (a liberal demographic) almost unanimously consider “ethical,” though each subsequent decision brings you through a terrible flowchart of new complicated ethical decisions. Everyone has a lot to say about this and I’ve been disappointed by how ill-equipped genetic counselors are to have these conversations. I noticed that the only mention of a “genetic therapist” in “The Vanishing Family” was in the scene I quoted above. This article was long and I have no way of knowing what information Kolker chose to omit, but I wonder if their absence in this article isn’t indicative of gaps of care in the ongoing diagnostic process. I wish that before I even signed the consent for genetic testing, the geneticist had warned me about implications for disability and life insurance coverage, that you can never un-know this information, about the possibility of over-treatment once my organs are being monitored for tumors. 

It has also been interesting that no genetic counselor I’ve seen has proactively used the word “abortion” or “termination,” even when discussing prenatal testing. When they still weren’t able to identify my mutation through a blood test, but I had enough symptoms for a diagnosis (this is called “occult”), a genetic counselor told me that I could always test a fetus at 21 weeks. No conversation of what comes next if the baby did have TSC. No conversation about “embryonic rights” trends in the United States and what that could look like for individuals, both financially and legally. And I haven’t even touched the implications of virtually eradicating certain diseases among wealthier people.

I also know there’s a thin line between a healthy distrust of healthcare and healthcare-adjacent companies that profit off people’s desperation to become parents, and saying that people shouldn’t have access to gender affirming treatments and only cis straight people should be allowed to have kids. (Certainly having readily available sperm and egg are not the ingredients needed to be a good parent.) In considering these nuances I often think of the Cosmic Pathway exhibit at the Museum of Natural History, a 360-foot ramp that lays out the 13 billion year history of the universe. Each step represents millions of years; all of human history is represented by a single strand of hair at the end. We’ve had a hair strand’s hair strand to process species-altering scientific developments. IVF only became widely available in the 1980s (if you can even classify something so expensive as “widely available”). Everyone has to decide for themselves where they land on these issues, but I wonder if an expanded role for genetic counselors at every step of the diagnostic process might help people at least consider what questions they could be asking themselves when they incorporate twenty-first century science into their fertility decisions.