April 28, 2005

O&A: Kelly Ormond discusses genetic counseling

The director of the graduate program in genetic counseling and assistant professor of medicine talks about the increasing amount of genetic information available and the impact it has on an evolving medical profession

Kelly Ormond, director of the graduate program in genetic counseling and assistant professor of medicine at the Feinberg School of Medicine, discussed with Health Sciences Editor Elizabeth Crown how the completion of the Human Genome Project in 2001 and technical advances in genetics and genomics have created a growing need for genetic counselors in all areas of medicine.

Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.

They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review options with the family.

What are your clinical and research interests?

At the University of Vermont and Northwestern, I coordinated a Pregnancy Risk Service, which counseled clients about teratogens, which can be medications, chemicals or environmental substances, including radiation or infections. Some exposures are teratogenic if they happen during a pregnancy and can cause birth defects in an embryo or fetus.

I also have coordinated a population-based carrier-screening program for cystic fibrosis and diseases prevalent among Ashkenazi Jews.

And most recently, I provide genetic counseling for patients with a family history of Huntington’s disease, Alzheimer’s disease or other dementias and other adult-onset disorders.

My other research and education interests focus on the impact of genetics on perceptions of disabilities, ethical issues in genetics — specifically, informed consent and how people make decisions about whether or not to have genetic testing — and integrating genetics into internal medicine practice.

How has completion of the Human Genome Project affected genetic counseling?

Genetics and genomics are rapidly becoming integrated into all areas of medicine, and this is radically changing the way genetic counseling is practiced. At this point, most chronic diseases have been shown to have some degree of inherited predisposition, although this varies depending on the specific condition, and on an individual’s family history.

Since I’ve been in practice, the amount of information we have and can test for has increased dramatically, and it continues to change at a fast pace, making it difficult for those of us specializing in genetics to keep up to date on the latest technology and medical implications for various genetic conditions. As a result, much of our teaching focuses on developing critical thinking and research skills to help new professionals keep up with the rapidly changing field.

How has the role of the genetic counselor evolved?

There has been an increasing need for genetic counselors since even before the sequence of the entire human genome was published. Historically, genetic counseling focused on relatively rare conditions that had no treatment, and we offered primarily supportive counseling and/or help with decision making.

As we increase our ability to identify genetic risks and to personalize medical care as a result, genetic counselors will be needed in growing numbers to help families and society cope with the growing information about and psychological implications of this genetic revolution.

Genetic counselors are currently employed in a variety of roles and are located in hospitals and clinics; in diagnostic laboratories; and in government agencies to design genetic education programs and shape public health policy. I imagine that as our library of genetic information expands, we will see concomitant growth and increasing specialization in the profession of genetic counseling.

As president of the National Society of Genetic Counselors, what are your goals for the society and the profession?

The society is celebrating its 25th year, and a major issue we are focusing on is increasing recognition of the profession as qualified and credentialed providers of health care services. One example of this is Illinois’ recently approved Genetic Counselor Licensure Act. Illinois is only the third state in the country to pass a bill to license genetic counselors.

We’re also working on a national level to advocate for state and federal bills that will protect our clients from genetic discrimination, and considering ways that the profession can work to increase access to genetic counseling services for underserved communities — whether rural areas or community health centers or through the increased recruitment of minorities and those who speak languages other than English for service provision.

But most importantly, we’re working diligently to improve the ability of genetic counselors to bill independently for the clinical services they provide as part of the health care team.