Skip to main content

To Inform or Not to Inform? That Is the Question for Genetics Researchers

To Inform or Not to Inform? That Is the Question for Genetics Researchers

Researchers need to know the genetic profiles of their study participants to understand more about how certain mutations manifest disease. But do the participants have to know?

A group of 35 Parkinson’s disease (PD) researchers published today in Genetics of Medicine the different answers to that question among sites investigating mutations in the LRRK2 gene, the greatest known genetic contributor to PD. Investigators from The Michael J. Fox Foundation-sponsored LRRK2 Cohort Consortium authored the letter to the editor.

The consortium spanned nine countries on four continents. People with PD and their family members were screened for a LRRK2 mutation, and researchers conducted a more thorough investigation on carriers and a subset of those without mutations.

“The study design raised an ethical question: Should the genetic testing results be reported to participants?” the authors wrote. People with Parkinson's who carry the mutation are not treated differently than non-carriers with PD, and there are not yet preventative therapies to offer people with the mutation who do not have PD.

In general, mutations in the LRRK2 gene account for less than five percent of PD cases, but that number jumps in certain ethnic populations; LRRK2 mutations are associated with 18 to 40 percent of PD cases among those of Ashkenazi Jewish or North African Berber descent. Adding to the complexity is the unknown “penetrance” or association between a mutation and disease onset; estimates range from 24 to 80 percent.

LRRK2 Cohort Consortium sites in the United States did not offer genetic results to participants with PD, but Israeli sites concluded it would be unethical not to provide such information and therefore informed all PD participants who requested their results. Most study sites did not offer results to non-PD participants unless they first received genetic counseling. The Toronto team stopped offering these results after they felt participants had trouble grasping the information.

The letter’s authors outline the arguments for each side: Knowing one’s genetic risk may be distressing. However, many feel that this data is the property of the participants and they should be allowed to receive or refuse it as they prefer.

“It is true that presently there is no definitive action one can take to offset genetic risk for Parkinson’s disease,” said Brian Fiske, PhD, vice president of research programs at The Michael J. Fox Foundation. “However, individuals who do choose to learn their genetic status can play an important role in teaching researchers about the disease and possible treatments.”

The MJFF-sponsored Parkinson’s Progression Markers Initiative is enrolling people with the LRRK2 mutation, both with and without PD. Learn more on our genetics page.

Additonally, our Senior Vice President of Research Partnerships Sohini Chowdhury recently spoke before the Presidential Commission for the Study of Bioethical Issues on the need for the patient voice in conversations around genetic testing. Watch her presentation.

We use cookies to ensure that you get the best experience. By continuing to use this website, you indicate that you have read our Terms of Service and Privacy Policy.