Genetic counselor Katie Leonard (right) helps a couple understand how genes are inherited.

Pam Rhatigan remembers the day in 1981 when she and her husband, Brian, finished their genetic counseling sessions at the University of Arizona's medical center. They'd gone to discuss the chances that a baby they might conceive could be born with spinal muscular atrophy, a genetic disorder of muscle-controlling nerve cells that Pam was born with in 1953.

There was no family history and little information of any kind, other than that the disorder was most likely recessive (requiring two genes, usually one from each parent).

"They didn't even know what chromosome it was on," Rhatigan recalls. "There was no way to do genetic testing. There were so many unknowns that it was difficult to make an informed decision."

The Rhatigans went straight from their last counseling session to Pizza City, a Tucson restaurant, where they flipped a coin to decide whether Pam would bear their child. "Luckily for our son, the quarter came up heads, "Rhatigan says. Paul, born the following year, appears to have escaped SMA.

Exploding Information

The amount of information about genes and genetic diseases has exploded in the years since the Rhatigans had their counseling sessions. Hundreds of disease-associated genetic mutations have been identified, and dozens of such disorders can now be detected by DNA testing.

But none of the new information has removed any of the human concerns from the arena of decision making about having children. In fact, it’s added a few.

Not only do families have to cope with the uncertainties and mathematical probabilities of conceiving a child with a genetic disorder, they're often then presented with the option of being tested or having their children (born and unborn) tested for specific genetic characteristics that cause - or may cause - the disorder, and then dealing with the results.

Enter the genetic counselor, a relative newcomer to the health care team but one who plays an increasingly important role as the volume and complexity of genetic information continues to grow. Unfortunately, many people aren't quite sure just what a genetic counselor does or how and why they should see one.

Not Psychoanalysis

First, the term "counselor" tends to confuse people, says Katie Leonard, who's been a genetic counselor at Baylor College of Medicine in Houston for almost a decade. Her practice includes clients from MDA clinics in the area. Leonard tells people, "We don't do psychoanalysis." It's an educational process, she explains, in which the genetic counselor and the individual client or family sit down and discuss the matter at hand.

"Genetic counselors are trained to talk at the level of the family, in everyday language," Leonard explains.

The talking usually involves a family history and the drawing of a family tree to trace the disorder through the family, if possible. At this stage, Leonard asks the family for permission to review the medical records to get a firm idea of the diagnosis or to help them establish one, if necessary.

But, she says, "We don't do physical exams or diagnoses." A physician is brought in when such exams are needed.

Genetic counselors may also order and track genetic (DNA) tests for mutations associated with disorders. Genetic counselors, Leonard says, are particularly good at tracking things down. They make sure blood samples are properly drawn, packaged, sent to the right place, and that results are returned to the right place at the right time.

Genetic counselors also assess the laboratory doing the testing for its accuracy, its methods and its charges (sometimes covered by insurance and sometimes not).

"We help with insurance; we make sure the blood gets drawn and that the samples get sent out; we put the paperwork together," Leonard explains.

Once the diagnosis is established, Leonard helps the family understand the inheritance pattern for the identified mutation and helps the client (often a couple trying to decide about childbearing) to assess the risk of having a child with the disorder.

She also examines options with couples who want to have children but are concerned about the genetic disorder. In addition to traditional options in such situations, such as not having children or adopting children, Leonard and her colleagues can now offer an array of somewhat high-tech childbearing solutions.

Among all the discussions of DNA and family histories and high-tech conceptions, Leonard emphasizes that "there's an emotional side of all this." She's always concerned with questions like, How has this been affecting the family? What are they having trouble with?

Although she emphasizes that genetic counselors don't do in-depth or long-term counseling (they refer clients to mental health professionals when they need this type of help), they're concerned with the family's emotional and psychological needs and with the family's values. "We try to identify what clients want and need now with regard to the genetic disease in question and its transmission," she says.

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