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The Gene Gurus
Genetic counselors help us grasp our biological destiny

With help from the genetics team, nurse Debbie Ekonomides and her 2-year-old son, Michael, are learning to live with his disease.
From the beginning, Debbie Ekonomides knew something wasn’t quite right with her baby. He wasn’t eating well and seemed lethargic. Her hunch proved prescient. Just a day after she and her infant son, Michael, were discharged from the hospital, Ekonomides received news that a blood test taken at the baby’s birth showed he had galactosemia, a rare metabolic disorder.

Ekonomides brought her baby to Hopkins, where he would stay for five days. She learned from Amanda Bergner, a genetic counselor, that once Michael’s dehydration and jaundice were under control, he would need to avoid milk products and certain other foods for the rest of his life. And because developmental and ocular problems can occur with this syndrome, he would require further evaluation. Through it all, Bergner would help coordinate his care.

Two and a half years later, Ekonomides, an adult psychiatric nurse on Meyer 3, says Bergner has made living with a chronically ill child much easier. Besides referring the Ekonomides family to specialists, Bergner put them in touch with a family in similar circumstances. And every three months, Bergner, Ada Hamosh, clinical director of the McKusick-Nathans Institute of Genetic Medicine, or a nutritionist meets with the family to assess Michael’s progress. For Ekonomides, the biggest plus has been the constant support. “I can call them up anytime and ask, Is this normal?”

Bergner is one of the School of Medicine’s 22 genetic counselors across disciplines, including obstetrics (prenatal), pediatrics, oncology and cardiology. About half are involved in research or public policy. The rest, like Bergner, are in clinical practice. With their specialized graduate degrees in medical genetics and counseling, they can identify family risk and inheritance patterns and help doctors pinpoint a diagnosis. They also help families understand the course of the disease and review available treatment options.

Not long ago, physicians could recognize disease-linked genes for only a handful of diseases, like hemophilia, Huntington’s disease and sickle-cell anemia. Now, new disease genes are being discovered almost weekly. Already, more than 2,700 genes have been tied to human disease, and new tests are emerging at a dizzying pace. Genetic counselors—arguably the 21st century’s fastest growing specialty group—strive to help patients make sense of the tests and results.

Genetic counselors, from left, Ginny Corson, Cheryl Pendergrass and Amanda Bergner guide patients through the maze of inherited disorders.

In 1975, Ginny Corson became the School of Medicine’s (and Baltimore’s) first genetic counselor. She was a graduate of one of the nation’s four genetic counseling training programs. Today, there are about 30 of these programs. Corson began her career in pediatrics, but is now one of Hopkins’ four prenatal genetic counselors.

Most prenatal referrals, which number about 1,000 a year, are either pregnant women over 35 years old, or those with abnormal blood-screening tests, suspicious sonogram results or a strong family history of a disease. “Fortunately,” Corson says, “most of the time I give people good news.” But when the results are positive for a disorder, like Down syndrome, her job becomes wrenching. “You know that phone call will change their lives.”

With obstetric procedures like amniocentesis, chorionic villus sampling (CVS), ultrasound and maternal blood screening, testing for genetic abnormalities now is more conclusive. But while the diagnosis may be quite clear, the outcome can be uncertain. In those cases, Corson conducts a literature search to see if she can predict how well a baby diagnosed in utero with a birth defect like, say, spina bifida, is likely to do. Ethical dilemmas surrounding these predictions are agonizing to genetic counselors and their patients. Some patients choose not be tested in the first place, under the mantra “ignorance is bliss.” Far more, most genetic counselors agree, believe knowledge is power.

At the Johns Hopkins Cancer Risk Assessment Program, four clinics measure risk and offer genetic counseling and medical management for hereditary syndromes, including colon, breast and/or ovarian, pancreatic and lesser known cancers. Cheryl Pendergrass is one of two cancer genetic counselors in the program who help patients and family members weigh the benefits, risks and limitations of learning their genetic predisposition for a disease.

But there are no clear-cut answers. Mutations do not guarantee that breast cancer, for example, will show up. In the BOSS (Breast Ovarian Surveillance Service) clinic, one woman was found to have a mutation in the hereditary breast cancer gene BRCA 2. This result provided the patient with a 50 percent to 85 percent lifetime risk of developing breast cancer, and she decided to have a double mastectomy. Pendergrass discusses genetic testing options and the likelihood of detecting a mutation in families with a strong history of cancer because screening procedures like colonoscopies and certain drug treatments can prevent cancer and save lives.

Dan Judge and Nicole Johnson.
That dictum applies to other diseases too. Sudden cardiac death can result from familial cardiomyopathy, an abnormal thickening of the heart walls. When this condition is diagnosed through genetic testing, patients can be monitored and treated with drugs. Cardiologist Dan Judge recently added genetic counselor Nicole Johnson to his team to manage families with this tendency. “She’s helped them absorb the devastating news and take charge of their lives,” he says. “The very awareness of the disease can save other relatives.”

Before long, almost every specialty will have access to genetic information on patients. When that day comes, genetic counselors will be at the forefront, making sense of it all.

—Judy Minkove

Genetic Counseling Clinics at Johns Hopkins
Prenatal: JH Prenatal Diagnosis and Treatment Center, 410-955-3091
Pediatric/Adult: JH Clinical Genetics, 410-955-3071
Cancer: JH Cancer Risk Assessment Program, 410-502-7082

Genetic Legacies

Johns Hopkins has a longstanding tradition of pioneering in human genetic medicine. The importance of studying the genetic basis of disease and disorders was demonstrated by Victor McKusick, University Professor of Medical Genetics, who was among the first to link the unusual symptoms of a known inherited disease—Marfan syndrome—with a single defective gene. McKusick created the Division of Medical Genetics at Hopkins in 1957, the first such division of its kind. He later founded the Short Course in Experimental Mammalian Genetics at Jackson Laboratories in Bar Harbor, Maine, then as now the sine qua non for medical geneticists around the world. In recent years, Hopkins scientists Bert Vogelstein and Kenneth Kinzler were the first to identify genes for inherited colon cancer. Researchers here were the first to assign a gene for a blood group to a specific chromosome, setting off worldwide interest in gene mapping.

 

 

 

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