Identifying ‘disease genes’ helps patients and families prepare
An expectant mother in her forties worries about Down syndrome. A woman whose mother and grandmother died of breast cancer wonders if she will get it. The family of a man with heart disease wants to explore how they can prevent the same fate. Our genes, after all, determine our future health to some extent.
All of these people can benefit from genetic counseling, which translates complex medical information about heredity into understandable terms and addresses the implications for the individual and family.
Genetic counseling is available right here at the Health System.
“The availability of the genome sequence has revolutionized the identification of disease genes, the development of genetic tests and the provision of genetic counseling,” says Medical Genetics Counselor and Clinic Coordinator Wendy Uhlmann, M.S., C.G.C., clinical assistant professor of internal medicine and human genetics.
Today, the Health System offers genetics services in many clinics (see sidebar). The clinics diagnose genetic conditions, provide care, assess risks and implications, determine testing options, coordinate genetic testing, identify supportive resources and provide genetic counseling.
By the time a counseling session is over, the patient and family should understand the genetic condition and how it is inherited, have received comprehensive information so they can make informed health care and life decisions, and have the tools to begin addressing the personal and family issues related to the genetic condition.
“A genetic counselor’s expertise is in risk assessment, communicating genetic information in understandable terms, facilitating decision-making, and ensuring the right genetic test is ordered (if indicated) and correctly interpreted,” Uhlmann says.
UMHS clinics offering genetic counseling include:
- Medical Genetics (Adults)
- Cancer Genetics
- Pediatric Genetics
- Adult Neuromuscular Disorders
- Pediatric Neuromuscular Disorders
- Neurogenetics (brain and neurological conditions)
- ALS (Lou Gehrig’s disease)
- Breast and Ovarian Cancer Risk Evaluation
- Inherited Retinal Dystrophy
- Perinatal Assessment Center
- Obstetrics – Genetics
- Fetal Diagnosis & Treatment Center
- Center for Reproductive Medicine
- Hypertrophic Cardiomyopathy Program
- Pediatric Cardiac Genetics
According to the National Institutes of Health GeneTests database, there are now 605 U.S. labs testing for 2,542 diseases — 2,286 on a clinical basis and 256 on a research basis.
There are also 1,057 genetics clinics in the country. The Health System’s genetic clinic was one of the first, established in 1941. UMHS has a strong tradition in genetics and has been the breeding ground for several genetics-focused clinics.
Uhlmann is a graduate of the Medical School’s 20-month Genetic Counseling Program, as is GCP’s Program Director Beverly Yashar, M.S., Ph.D., C.G.C., associate professor of human genetics. Alumni have gone on to empower patients and families with medical knowledge, nationally and internationally, and to work in public policy, research, education, patient advocacy, public health and the biotechnology industry. They also have served in leadership roles in genetics professional organizations.
“The students who choose to train here love genetics,” says Yashar. Our program is one of only 31 such programs in the country and is so much in demand that 120 students apply every year for one of six spots.
“For years, there were four genetic counselors at the Health System,” she says. “Now there are close to 20. It’s definitely a growing field.”
She’s right. In 2009, US News & World Report named genetic counseling one of the top careers. To date, there are only 2,400 genetic counselors in the United States.