Genetics counseling in the genomic era
By Barry Teater
The genomic era has given us an eye-popping 32,000 genetic tests for 5,800 medical conditions involving 3,900 genes, according to the Genetic Testing Registry
Genetics counseling in the genomic era
By Barry Teater
The genomic era has given us an eye-popping 32,000 genetic tests for 5,800 medical conditions involving 3,900 genes, according to the Genetic Testing Registry, a database sponsored by the National Institutes of Health.
The number of tests has more than doubled in the last two years and continues to grow dramatically, driven by new technologies.
How then is a patient ̶ or even a physician ̶ supposed to understand this avalanche of new tests and make smart medical decisions about what the tests reveal?
“Genetic counselors can be an ideal resource to help you navigate the evolving genetic testing landscape and protect your health,” says Joy Larsen Haidle, a certified genetic counselor at the Humphrey Cancer Center in Robbinsdale, Minn., and president of the National Society of Genetic Counselors (NSGC). “An informed consumer is also an empowered consumer.”
The power of genetic testing and counseling took center stage in the national consciousness recently when the actress Angelina Jolie Pitt credited them with saving her life. Concerned about her familial risk of cancer – her mother, grandmother and an aunt all died of the disease – she received counseling and decided to take a blood test.
The results showed she had a mutation in her BRCA1 gene that gave her up to an 87 percent risk of getting breast cancer and up to a 50 percent risk of getting ovarian cancer. Those sobering numbers convinced Jolie Pitt to have her breasts surgically removed, almost certainly preventing breast cancer for the rest of her life.
As they were for Jolie Pitt, genetic counselors can be a critical part of a patient’s health-care team. They are medical professionals who hold specialized master’s degrees focused on genetics, health and related psycho-social issues. Their training is designed to guide patients through a potentially difficult time by discussing with them how their particular genetic makeup could impact them and their families, now and in the future.
“The skill sets held by genetic counselors are a unique combination of intense science, critical thinking and empathic counseling,” says Larsen Haidle. “It is unique to understand complicated scientific concepts and be able to explain them in a meaningful and supportive way.”
Genetic counselors are a rare breed. There are only about 3,000 certified counselors nationwide, but the profession is projected to grow by 41 percent through 2022, according to the U.S. Bureau of Labor Statistics.
The first genetic counselors graduated in 1971 from Sarah Lawrence College in Bronxville, N.Y. They worked mostly in obstetrics and pediatrics, counseling parents and interpreting genetic test results for conditions such as phenylketonuria (PKU), a metabolic defect inherited by newborns that causes mental retardation if not treated.
Today genetic counselors graduate from any one of about 30 training programs across the country. They cover just about any disease or condition that could affect you or a family member, working in medical specialties such as cardiology, hematology, infertility, metabolic disorders, neurogenetics, oncology, pediatrics, personalized medicine and psychiatric disorders.
Patients are often referred to genetic counselors after a physician assesses their family medical history or after a diagnostic test raises a red flag about a particular condition or disease. Patients can also engage counselors on their own. (The NSGC sponsors a free directory of counselors at www.findageneticcounselor.com.)
Things to know before you visit a genetic counselor
Before engaging a genetic counselor, it’s helpful to know some practical information:
- Consultations typically last from 30 to 90 minutes, and follow-up sessions may be required.
- Counseling sessions usually cost a couple of hundred dollars, while genetic tests can cost several hundred or a few thousand dollars, depending on the type.
- Genetic counseling is widely, but not universally, covered by insurance, especially among patients who can document a high risk for a condition or disease. Many insurance companies consider genetic counseling and testing to be good business ̶ a cost-effective way to prevent and treat diseases.
- Patients who get counseling and testing are protected from potential genetic discrimination by their employers or health insurance carriers by laws such as the Genetic Information Nondiscrimination Act of 2007, also known as GINA. (However, GINA does not apply to life, disability or long-term care insurance. Some states have enacted laws to fill these gaps.)
- Genetic counselors can