Every genetics story is a story about family. No one who studies her own pedigree—the circle-and-square trees that denote inherited disease—can fail to see the bold links that tie us to brother, grandmother, aunt and child. And if a pedigree is blunt poetry, the shorthand of family anatomy, from it flow innumerable stories, of generation and generations, of flesh and bone and blood.
The four genetic counselors I interviewed for this article, all graduates of the college’s Human Genetics graduate program, are repositories of these stories. These counselors, trained in science and compassion, have dispensed advice and information and solace to thousands of families from Toronto to New York to Dallas. At times, they have done much more: holding the hand of a woman undergoing a prenatal test, helping to resolve long-standing estrangements between relatives, shepherding clients through a maze of complex biology and bewildering emotions.
But most of all they have listened. They can tell tales of almost Biblical resonance, of the guilt of fathers and the enmity of brothers, of mothers bearing repeated sorrow. Here, sisters reveal dark secrets, long-lost relatives deliver a single bit of terrifying news, and women in a long, straight line hand down breast cancer like some worn and polished heirloom, like a sharp brooch, like a hope chest.
Ironically, perhaps, these are primarily stories about connections that cannot be severed even through feuds or separation or denial. Families endure; DNA doesn’t lie; and human beings respond as human beings have always responded, with grief, love, shame, bitterness, pride and guts.
Genetic counselors—the translators of code, evokers of emotions, erstwhile re-weavers of torn family fabric—midwife these stories into being.
“I got into genetic counseling to make a difference in helping families,” says Chris Trevors MS ’03, who has been practicing for the last two and a half years at the Hospital for Sick Children in Toronto. Still, he says, he wasn’t prepared for the intense involvement he’s had with one family over a recent few weeks, when all his skills and training were put to the test.
It started with one baby, a child diagnosed with spinal muscular atrophy, a genetic neuromuscular disorder that, in its most severe form, causes death by the age of three. When the mother unexpectedly became pregnant again, she elected to have CVS (chorionic villus sampling), an early prenatal test. Trevors was there for the CVS, and a few weeks later, still awaiting results, he flew to Los Angeles for a genetics conference. While there he received news that the first child had fallen ill and had been admitted to the hospital’s intensive care unit.
“I was worried that I was going to have to give them bad news about the prenatal test, too,” he says, but when he came back to Toronto, he found out that the results were in, and that the fetus hadn’t inherited the SMA gene. He raced to the ICU to tell the sick baby’s parents.
“I went in and told them and they were so happy….The mother was sitting on the bed, her mother-in-law was holding the baby, and suddenly, as we were chatting, I looked over, and the baby began to turn blue…and then he passed away.
Genetic counselors can tell tales of almost Biblical resonance, of the guilt of fathers and the enmity of brothers, of mothers bearing repeated sorrow.
“It was so intense, to be there at such a vulnerable moment in the life of a family. As genetic counselors we prepare ourselves to discuss, to lead up to, the potential for loss; we often talk to people about their grief afterward, but I don’t think I was really prepared to be there when the child died.
“What really amazes me is the resilience of people, the ability to cope. Later the mother said to me that her son ‘waited until I had good news about his sister before he said goodbye.’
“As a counselor, you struggle not to get too emotional, to be there for the family. But I’ll tell you: it was one of the most moving experiences I’ve had in my life.”
The letter from a patient’s cousin sat in a drawer like a jack-in-the-box waiting to spring open.
“My client hadn’t heard from this cousin in 20 years and suddenly she gets this letter saying she has discovered she has a breast cancer gene,” says Annette Patterson MS ’00, who has been working at the University of Texas Southwestern Medical Center in Dallas since getting her degree. The gene, BRCA1, greatly raises the risk of developing breast and/or ovarian cancer.
“She got that letter and she didn’t want to deal with it. So she put it in a drawer. Both her mother and grandmother had died at 47, one of breast and one of ovarian cancer.” That isn’t unusual in Patterson’s cancer genetics practice, where many of her clients have lost family members, or have dying relatives.
“This woman spent her life wondering if she would also die at 47.”
But when she got the letter she was only 36, and, perhaps thinking magically, she waited a year before going to Patterson’s clinic. When testing revealed she also carried the gene, Patterson recommended a prophylactic mastectomy and oopherectomy (removal of the ovaries). “She had to fight with the insurance companies for months to get them to cover the cost of the surgery. And when they finally operated, after they did the mastectomy, when they went to pluck out the ovaries, they found an advanced ovarian cancer. She’s on her third round of chemotherapy, but she’s still alive.”
Rather than being bitter or angry at the way things have turned out, the patient has become an activist, an advocate of sharing genetic testing results with family members.
“The way she sees it,” says Patterson, “her cousin, someone she hadn’t spoken to in so many years, saved her life, and gave her some extra time to be with her children. She wants to make sure other people get that chance.”
Amisha Shah MS ’02 grew up in India and received a molecular genetics degree in Scotland before coming to the SLC program in 2000. “I wanted to work with a variety of patients in an ethnically diverse setting,” says Shah, who for the last three years has held a position at Elmhurst Hospital in Queens, New York.
This story concerns a Mexican/Irish couple who had trouble conceiving a healthy baby. Both were Catholic, and both came from large, close families. An ultrasound of their first child had shown multiple fetal abnormalities. Genetic testing revealed a chromosome translocation. Despite their religion, they decided to terminate the pregnancy.
“She told only her mother,” Shah say. “No one else in either family knew.”
Shah advised against it, but the wife quickly conceived again, and opted to wait for another ultrasound rather than risk even the small possibility of miscarriage that amniocentesis or CVS may incur.
Once again the fetus showed severe abnormalities; once again the couple decided to terminate–this time telling absolutely no one.
“Two months later, the woman comes back, an emotional wreck. The husband apparently now doesn’t want to have children with her. This is a woman with strong family ties, and she has tremendous guilt, not only about the abortions, but also about not telling her family. In fact, she believes that the not-telling is the reason she’s not allowed have a normal family”—a punishment to fit the crime.
“Upsetting as those thoughts might be,” Shah says, “she really needed to get to that place. One of the things I was taught is that when you give bad news, until a patient cries she hasn’t accepted it. Now that this woman was in touch with her emotions, she could really grieve over those two lost pregnancies.”
“What I tell young people in the field,” says Elsa Reich MS ’74, who attended the SLC program in the early days of genetic counseling, “is to try and develop a sense of what’s in it for you. If I didn’t get something out of my interactions with patients, I would become harsh, or bored. I’d get burnt out.”
Clearly she is not any of these. At 71, Reich is a professor of pediatrics at NYU, where she has been involved in setting up prenatal, pediatric, cancer, neuromuscular and reconstructive programs for patients. “I love the science,” she says, “but I also love the people.
“A lot has changed in thirty years,” she says. “There are many more reliable tests, better diagnoses. That’s good. But there are issues that remain the same. There are still people who have children with a disability, still people with heritable diseases.” But not everyone looks at these so-called defective genes tragically, either, she says; it depends on your perspective.
Reich has known one client for many years, a woman from an Orthodox Jewish community who has an inherited craniofacial disfigurement. She has had eight children, five of whom were affected; two have died.
“And what this woman says is this: ‘I’d prefer they didn’t have this condition. But they’ll have to make their way in the world, just as I have.’ She is always up upbeat, always positive.
“A lot of my patients are able to articulate what are often very painful situations. But you have to remember that these are also experiences from which they may derive insight, pleasure, pride. Because what it tells them about themselves is: ‘You’re tough; you’re strong.’
“Part of what I get from my patients is this: If they can get through it, so can I.”