What Would You Do If Genetic Testing Revealed Future Illness?

Many people are familiar with the idea of testing one’s DNA for genes that indicate risk of particular disease; mutations in the BRCA1 and BRCA2 genes, for example, indicate a woman is at heightened risk for a hereditary form of breast and/or ovarian cancer. Tests for the BRCA mutations are limited to those genes alone. They do not reveal the entire story being told by all the genes in one’s complete DNA composition (the whole genome).

Whole genome sequencing (WGS) is a new and controversial technology that is still being used in laboratory settings rather than clinically (by healthcare professionals looking to treat an individual patient for a specific medical condition). The first human genome was sequenced (interpreted) in 2003 at a cost of $2.7 billion; sequencing took 13 years. Today, the entire human genome can be sequenced in a matter of days for less than $10,000.

Whole genome sequencing tells the whole story of one’s genetic past and future. It may reveal the genetic predisposition for diabetes, for example, but it doesn’t guarantee the disease. In many cases, diabetes can be prevented with healthy lifestyle choices. Other diseases, like Alzheimer’s, cannot be prevented at this time. There are many lifestyle and environmental factors that determine whether or not the gene(s) that signal a disease will be activated to produce disease but in many cases, preventive measures are currently unknown.

What would you do if genetic testing revealed future catastrophic illness for yourself or a child? Would you want to know? As the cost of WGS is dropping and the knowledge of genetic influences in disease and health is increasing, researchers at the University of Michigan set out to discover how the general public feels about the possibility of knowing the health risks that may be in their future. They envision a future when medical care will be customized to the individual patient based on the genetic data revealed in the patient’s WGS.

Beth Tarini, MD, MS, is an assistant professor of pediatrics at the university’s CS Mott Children’s Hospital and is a researcher at the Child Health Evaluation and Research Unit. She led the research team that queried adults on their interest in WGS for personal use. The research revealed:

• 62% response rate from their pool of potential study participants.
• 55% of the respondents were parents.
• 58.6% of all (parents and non-parents) were interested in WGS for themselves.
• 61.8% of the parents were interested in their own WGS.
• 57.8% of parents were interested in WGS for their youngest children.
• 84.7% of parents were equally interested in WGS for themselves and their youngest children.
• Mothers were more interested in WGS than fathers and non-parents.
• Parents of a young child or youngest children who had 2 or more health conditions were significantly more interested than other study participants.
• People who described themselves as politically conservative were considerably less interested in WGS than the study group as a whole.

Tarini’s research team found significant interest in WGS, a finding that leads the researchers to suggest healthcare professionals in public and private facilities might want to prepare themselves to discuss WGS with their patients in the not-so-distant future.



Sources:

1. Tarini, B A., et al. "Parent and Public Interest in Whole-Genome Sequencing." Public Health Genomics (2015). Karger AG, Basel. Web. 19 Mar. 2015.
2. "Whole Genome Sequencing." Genetics Generation. University of San Diego and Know Genetics, 2013. Web. 19 Mar. 2015.
3. "Privacy and Progress in Whole Genome Sequencing (.pdf)." Bioethics.gov. Presidential Commission for the Study of Bioethical Issues, Oct. 2012. Web. 19 Mar. 2015.