Genetic Counseling: The Science Is the Easy Part

By Chedd, Naomi Angoff | The Exceptional Parent, August 1995 | Go to article overview

Genetic Counseling: The Science Is the Easy Part

Chedd, Naomi Angoff, The Exceptional Parent

Charlie and Jennifer Ross were just over 30 when they got married five years ago. They were healthy, gainfully employed and eager to start a family. Jennifer was thrilled when she got pregnant "the firs time out of the gate," as she put it. She spent the next eight months reading all the right books, decorating the nursery and cutting back to a part-time work schedule. Her labor and delivery went smoothly; both Charlie and Jennifer felt they were the luckiest people on earth.

When their daughter Alyssa was diagnosed with cystic fibrosis (CF) two months later, it was like a bolt from the blue--"an eight on the Richter scale," says Charlie. They had heard of the disease only vaguely, and neither knew of anything similar in their family backgrounds. They didn't know where to turn for help, until their pediatrician suggested they consult a genetic counselor. "A what?" asked Jennifer.

Genetic counselors are the savvy and eloquent people you see being interviewed as part of news reports on major breakthroughs in our knowledge about the cause or treatment of a devastating illness or the discovery of a cancercausing gene. But for Charlie, Jennifer and Alyssa, genetics is more than a talk show topic. The Rosses, and thousands of other families, are the people behind the headlines; they know all too well that advances in genetics are making life harder and easier at the same time.

What is genetic counseling? The mother of a six-year-old with Down syndrome put it well when she said, "In two one-hour sessions, our counselor taught me everything I wished I had remembered from Biology 101, Psychology 101 and Philosophy 101." Genetic counseling draws on knowledge from these fields--and others--in an effort to provide the most accurate, up-to-date information on the causes and treatment of genetic disorders, the tests available for identifying them, a possible prognosis for a child with a genetic condition and the prospects for future pregnancies.

Who does genetic counseling?

After Alyssa was diagnosed, the Rosses consulted a certified, Master's-level genetic counselor, one of about 1200 in the United States. But a family with a child who has a genetic condition may also receive useful information from their family practitioner, obstetrician, pediatrician, a neonatologist, a nurse with a subspecialty in genetics or a geneticist with in-depth knowledge of their child's particular condition.

Although different professionals provide genetic counseling in slightly different ways, they all agree it is a process of communication. "We help families look at the big picture, not just the medical diagnosis," says Kathryn Spitzer Kim, director of clinical placements for Brandeis University's genetic counseling program, one of only 20 such programs in the country. "We also talk about the social, educational and financial considerations."

A good genetic counselor should have first-rate knowledge of genetics. But he or she should also be able to communicate that knowledge in easy-to-understand language. And, according to Barbara Bowles Biesecker, genetic counselor and section head at the National Center for Human Genome Research, National Institutes of Health, genetic counselors must be able to listen as well as talk. "People are terrified when they get a diagnosis," she explains. "They often ask, 'Why did this happen?' They already know the scientific explanation; what they are really asking are the more soulsearching questions--'How will I cope? Will I be able to love and accept this child?' Genetic counseling is much more complicated than explaining percentages. Actually, the science is the easy part."

Charlie and Jennifer agree. "We didn't want to spend the rest of our lives searching for genetic clues in our family backgrounds; we wanted to find help, people who understood what we were going through. We just wanted to talk."

More than prenatal testing

Possibly the most important thing families can get from a genetic counselor is time--time to process a lot of information, time to ask questions, time to consider options and, perhaps, time to grieve the considerable losses they may experience. …

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