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Genetic counselors help patients understand DNA issues

The professionals translate medical jargon for people whose genomes may hold risks for diseases.

April 18, 2011|By Eryn Brown, Los Angeles Times
  • William Hanberg and Heather Spear talk with UCLA genetic counselor Michelle Fox about daughter, EmmaRose, 2 1/2, who has developmental delays.
William Hanberg and Heather Spear talk with UCLA genetic counselor Michelle… (Jay L. Clendenin, Los Angeles…)

Heather Spear and William Hanberg sit with their daughter EmmaRose in an examination room at UCLA. At 21/2, 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, dieticians 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.

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% who do the job 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.

The job isn't wildly lucrative — the average starting salary in 2010 was $63,712, according to the National Society of Genetic Counselors — but practitioners say they love it. Rankings gurus at U.S. News & World Report included genetic counseling among the best careers of 2009, citing 90% job satisfaction.

"It combines everything I love to do," says UCLA's Fox. "Talking to people, and science."

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."

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.

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