Tools for communicating risk for Parkinson's disease

Abstract

We have greater knowledge about the genetic contributions to Parkinson’s disease (PD) with major gene discoveries occurring in the last few decades and the identification of risk alleles revealed by genome-wide association studies (GWAS). This has led to increased genetic testing fueled by both patient and consumer interest and emerging clinical trials targeting genetic forms of the disease. Attention has turned to prodromal forms of neurodegenerative diseases, including PD, resulting in assessments of individuals at risk, with genetic testing often included in the evaluation. These trends suggest that neurologists, clinical geneticists, genetic counselors, and other clinicians across primary care and various specialties should be prepared to answer questions about PD genetic risks and test results. The aim of this article is to provide genetic information for professionals to use in their communication to patients and families who have experienced PD. This includes up-to-date information on PD genes, variants, inheritance patterns, and chances of disease to be used for risk counseling, as well as insurance considerations and ethical issues.

Fig. 1. The jar and shapes can help demonstrate the multifactorial model of inheritance to patients.

Sample statement: Environmental factors (blue triangles) increase over time and can reach a disease threshold (top of jar). Genetic vulnerability (yellow beads), with which we are born, contributes to the jar, but is mostly static. Lifestyle habits such as moderate aerobic exercise may add “protective rims” to make the jar taller, raising the disease threshold.