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Guide through a medical maze Genetic counselors help patients understand risks, decide how to cope

Heather Spear and William Hanberg sit with their daughter EmmaRose in an examination room at UCLA. At 2 1/2 , EmmaRose is snuggly and engaging, but she doesn't yet walk or talk, and the family has traveled about 150 miles from Lompoc, Calif., to try to figure out why.

A genetic test showed abnormalities, including alterations to a gene linked to learning disabilities and autism. But no one's sure whether these lie at the root of EmmaRose's delayed development.

A large team -- doctors specializing in pediatric genetics, social workers, dietitians and others -- will help Spear and Hanberg figure out what's going on. But Michelle Fox, who joins them in the room, will be the family's primary contact. As a genetic counselor, it is her job to translate jargon -- talk of "chromosomes," "exons" and "gene duplications" -- into plain English, to help Spear and Hanberg bridge the gap between a sometimes bewildering clinical process and the everyday work of helping their child.

Fox explains EmmaRose's test results. She asks Spear and Hanberg about their medical history: How old are they? Do they have a history of illness or learning disability? How about EmmaRose's grandparents, aunts and uncles, cousins? Did Spear have an easy pregnancy?

She sketches out a family tree that will become part of the little girl's medical chart and recommends the couple have genetic testing too, to give doctors more information to work with.

"We're trying to figure out if the genetic change is significant," she explains, then adds: "We're not here to say, 'We're blaming you for something.' "

"We know," Hanberg says.

> Explaining the diagnosis

In medical centers across the country, genetic counselors such as Fox are the communicators: the ones who deliver genetic test results, explain what those results mean and help patients figure out what on earth to do about it. Many who come into contact with genetic counselors know them as messengers with good news: perhaps that a fetus has dodged a deadly genetic bullet in the family DNA. But others receive grimmer tidings: that they're carriers of a genetic disease such as cystic fibrosis, or that a woman has a gene predisposing her to breast cancer.

A genetic counselor may help a couple decide whether to change their childbearing plans. Or she -- 90 percent of counselors are women -- may help someone opt against getting a genetic test at all. She must be a dual expert, in the arcane science of DNA on the one hand and the delicate art of helping people cope with life-changing medical news on the other.

Unlike doctors, who might get a few minutes to talk through a complicated health issue, genetic counselors often get to build a rapport with patients, seeing them regularly over the course of years. They phone them when new discoveries about genetic diseases arise -- not unusual these days, as the technology to analyze DNA gets slicker by the year. Though genetic counselors right now are rather rare -- the National Society of Genetic Counselors has just 2,600 members -- as DNA data become cheaper to gather and easier by the moment to analyze, many genetic counselors think the field is on the cusp of a dramatic expansion.

As genetics has come of age, genetic counseling has grown up too. In the early days of the field, back in the 1970s, counselors mainly worked with kids with birth defects or disabilities like EmmaRose, adults with mutations causing conditions such as Huntington's disease, or couples undergoing prenatal screening.

Obviously, those roles remain. But now, as the era of routine genetic sequences and "personalized medicine" for all draws closer, genetic counselors are increasingly called upon to explain complicated results that may offer insights into risk for chronic conditions such as heart disease, mental illness and cancer.

"We used to think genetics applies only to people with a baby with a birth defect. Now we know more about its role in other conditions," says Karin Dent, president of the National Society of Genetic Counselors. "As human genome sequencing becomes a reality, we'll increase our numbers. We'll need to. I envision that some day genetic counselors will work in primary care doctors' offices. They'll work in pharmacies."

> Coping with the conditions

At UCLA's Medical Genetics Clinic on a busy Monday last week, you get a sense of the breadth of the job. Down the hall from the room where Fox is talking with Spear and Hanberg, Minh Vo and Hieu Le and their 2-year-old daughter, Autumn, talk with genetic counselor Naghmeh Dorrani.

Autumn was born with a rare metabolic disorder called Argininosuccinic acidemia, and lived with the disease, which causes a toxic buildup of ammonia in the blood, for 22 months before it was detected by doctors at UCLA. (Routine newborn screening failed to pick up the mutation.) Since the end of October, she has been on a special diet that reduces ammonia in her bloodstream, but she is expected to have some continued developmental delays, which could include learning disabilities or motor difficulties.

Dorrani was there when Vo and Le underwent genetic testing that showed that any child they might have has a 25% chance of having ASA (and when they got the good news that their second child, a 1-year-old boy, does not carry the gene.) Now that the genetic testing phase is over for the Le family, Dorrani is helping them move ahead with life -- in large part, by making sure they stick with Autumn's strict diet. She put together an "emergency letter" for Vo and Le to show to doctors should Autumn need treatment at another hospital.

The parents say that they call Dorrani whenever they have a medical question about the toddler's treatment, anytime, day or night.

"They'll ask, 'She's lethargic today, she's not eating -- what do we do?' " Dorrani says. "It's very concrete."

Around the corner, another family has come to the UCLA clinic because they suspect their young son has a mild form of autism, and they hope to learn whether there's a genetic cause.

Some days earlier, a middle-aged mother of four, who had just found out her birth mother had Huntington's disease, came in to see if she carried the gene for the fatal brain disease as well. If she does, she will get sick, and the condition is not reversible.

Sometimes patients facing serious genetic illnesses -- including Huntington's, early-onset familial Alzheimer's and others -- decide after counseling that they'd rather not find out what lurks in their genes. "It's not a choice everyone makes," says Pamela Flodman, director for UC Irvine's genetic counseling program. Genetic counselors talk through all possible results, urging clients to explore how they might react in each case. "They help the client work through the issues ahead of time to make an informed decision about testing," Flodman says.

> Making a decision

People considering prenatal testing sometimes opt out too, she adds. A couple might choose against an amniocentesis if they know that the results would not change their decision about having a child. Other parents choose to go ahead with prenatal testing in order to be better prepared when the child is born, or to get reassurance during pregnancy if the results are normal.

Hearing bad news is hard, but can be empowering for patients and their families, genetic counselors say. "Sometimes just knowing why a child is sick is really helpful. A sense of control is really important for parents," says Cathy Wicklund, director of the graduate program in genetic counseling at Northwestern University in Chicago.

As the workday comes to a close, Fox wraps up things with Spear, Hanberg and EmmaRose. She asks the couple, who are separated, about plans to have more kids. Neither has any -- "We're focused on loving her," Spear says of EmmaRose. They talk through plans for tests, insurance concerns, communicating with doctors closer to home. Fox advises Spear to always ask for the best phlebotomists to draw EmmaRose's blood.

Then she tells the family that she'll see them again soon.

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