April 2008

All in the Family

When a genetic disorder is diagnosed, who needs to know?

Remarkable advances in medicine have illuminated the genetic component of diseases like diabetes and some types of cancer, giving many patients a leg up on prevention and treatment. However, these developments have also raised new questions for health care providers, patients, and their families as they struggle with how to reconcile a patient’s right to privacy with the need of members of the patients’ families to know of genetic disorders that run in the family.

“This is a grey area. A conflict exists between the confidentiality of the patient—which would be violated by sharing information with a patient’s family—and whether the health care provider’s obligation of doing no harm extends beyond the patient to the family,” says EDC’s Debbie Sellers. “There are laws about confidentiality, and health care providers cannot share information beyond the patient without permission. However, most other medical diagnoses don’t have the impact and implications for other family members that conditions with a genetic component do.”

What would cause a patient to want to not share the results of such a diagnosis or screening test? The reasons range from lack of understanding about the condition to estrangement from family members. But, according to Sellers, if a patient’s family knows that they are at risk for certain genetic disorders, they can take steps to decrease their risk of developing the disorder or lessen its impact if it does develop.

For example, a woman who learns she has diabetes is counseled by her doctor to tell her adult children about the diagnosis. When she does not do so, the doctor is faced with a possible conflict: the patient’s right to privacy versus the need for her children to know about their own risk so they can take steps to decrease their risk of developing the disorder.

Sellers and Nancy Press of Oregon Health and Science University are leading a three-year study to examine this conflict between confidentiality and preventing harm. They have created a survey to measure attitudes about both a patient's and a health care provider's obligation to share information on genetic disorders with patients’ families.

Through an explicitly structured series of vignettes, the survey asks respondents to rate the appropriateness of actions taken by the patient and the health care provider. Once completed, the results of the survey will be published.

“We systematically varied the questions participants received so that we could examine the effect of factors such as the patient's gender and the degree of impact of the genetic disorder. We also did not mention a specific condition like Alzheimer’s because people have different levels of understanding about specific conditions and bring their own knowledge and experiences into play,” says Sellers.

The survey will be given to members of the general public, health care providers (including genetic counselors who deal with these issues regularly), and patients and family members who have actual experience in dealing with a genetic disorder. The study is funded by the National Institutes of Health.

For more information contact Debbie Sellers (dsellers@edc.org)

type full url here

©2008 Education Development Center, Inc. All Rights Reserved.