Genetics at the doctor’s office

Navigating the ethical, social, and legal challenges of genetic medicine

Since completing the mapping and sequencing of the human genome in 2003, scientists have isolated genes that identify numerous diseases—such as cancer, diabetes, and Alzheimer’s—that offer the prospect of future treatments and cures. With the rapid advancement of genetic technologies, genetic tests are becoming a basic part of health care, which some call the most significant medical advancement since the introduction of antibiotics. And while many want to know the secrets their own genes hold, few are prepared for the enormous effect this genetic knowledge may have, not only on their own lives, but on all who share their DNA.

Patricia McCarthy Veach, professor of counseling and student personnel psychology in the College of Education and Human Development, along with colleagues from the University of Minnesota Institute of Human Genetics and its Center for Bioethics, studies the challenges faced by genetic counselors and other health care professionals when dealing with genetic issues. In a groundbreaking study, McCarthy Veach documented and established nationally accepted standards to prepare health care professionals to provide skilled care amid the complex medical, ethical, social, and legal issues in genetic counseling.

About genetic testing

While individual genetic disorders are rare, collectively they affect more than 13 million people in the United States. The majority of genetic testing falls into the following categories:

• Predictive: Designed to predict the chances of a person developing an illness, such as Huntington disease, before symptoms occur.
• Prenatal: Test for potential diseases in the fetus in utero.
• Diagnostic: Like other medical tests, given to identify the cause of symptoms.
• Screening: Used to screen a specific population for a certain disorder.

What the research shows

McCarthy Veach and her co-investigators at the University undertook a three-year study to identify the issues encountered when patients present genetic concerns in the primary care setting. Funded through a grant from the Josiah Macy Jr. Foundation, McCarthy Veach and her colleagues conducted a national study of physicians, nurses, and genetic counselors that identified the following six areas as the most prevalent causes of genetic-related challenges in primary care:

Confidentiality: The results of genetic tests involve not only the patient, but often include children, siblings, and parents who share a susceptibility to genetic risk. Testing one person can disclose risk information about many others.

Discrimination: Clinicians and patients often raise concerns that sharing genetic information might result in loss of insurance or employment because of a possible future health condition predicted by genetic testing.

Diversity: Cultural issues have a profound impact on the way people deal with medical issues. Primary care providers need to incorporate other worldviews into their discussions of genetic risks and testing options.

Informed consent: Genetic information can carry a heavy psychological burden for patients and their families. Unlike clinical care where informed consent is normally required only for invasive procedures, in genetic medicine, informed consent means the patient must be thoroughly informed of all potential benefits and risks of genetic testing.

Keeping up with genetic knowledge: With genetic research evolving at a rapid rate, keeping up with new information presents a major challenge for primary care providers, who often have little genetics training.

Uncertainty: Possibly the most difficult challenge, uncertainty often relates to doubts (on the part of the patient or provider) about the usefulness of a genetic test, the purpose for which the test is being conducted, and its possible implications for the patient.

Based on the challenges identified from the research, McCarthy Veach developed an in-depth continuing medical education course that presents a case study for each challenge. Each case puts a different challenge in context, and provides background information about the specific genetic conditions related to the case. As participants navigate their way through a range of potential options for guidance using the “non-directive” approach of genetic counselors, the coursework guides them through several ways of thinking about the issues, offers thought-provoking information about the ramifications of each choice, and ultimately explains the best option.

What others say about this research

According to Betsy Gettig, director of the genetic counseling program at the University of Pittsburgh, “McCarthy Veach and her colleagues have contributed significantly to the landscape of the practice of genetic counseling. They have provided a much-needed roadmap to assist health care professionals and their clients through the complex process of decision-making and informed consent.”

“Pat McCarthy Veach’s contributions to the genetic counseling process have been significant,” says Anne Greb, director of the genetic counseling program at Wayne State University. “Her original research, coupled with her expertise in counseling theories and techniques, has enriched the genetic counseling field by helping us to better meet the needs of our patients and their families.”

Why this research matters

According to the National Center for Biotechnology Information, more than 15,800 known genetic conditions exist—with new ones discovered almost daily. “It is conceivable that genetic testing will touch everyone at some point during their life,” McCarthy Veach says, “yet even as genetic testing becomes more routine, the issues surrounding it will continue to grow in complexity.”

With only 3,000 board-certified genetic counselors in North America, it will fall to primary care providers to deal with the more routine, but no less complicated, issues of genetic medicine. McCarthy Veach’s pioneering research forms a foundation upon which genetic counselors and other health care professionals can provide compassionate, ethical help to a growing number of patients as they navigate unexplored medical territory.

For more information:
Patricia McCarthy Veach, 612-624-3580, veach001@umn.edu

June 2005