Genetic counselors provide scientific, personal guidance

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, 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?

“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.’ ”

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 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.

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.

“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 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 mental illness and cancer.

Karin Dent, president of the National Society of Genetic Counselors, says, “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, 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, which causes a toxic buildup of ammonia in the blood. Dorrani is helping them move ahead with life – in large part, by making sure they stick with Autumn’s strict diet. 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.”