Table 2.

Questions to consider regarding clinical use of genetic susceptibility testing for neurodegenerative disease

Patient Factors Does the patient have a family history of the condition? Does the patient have children, siblings or other at-risk relatives? Is the patient already experiencing possible symptoms? Is the patient cognitively able to comprehend the information to make an informed decision and understand the results? Is the patient psychologically able to cope with test results? Does the patient have identified sources of support (e.g., family members, friends) and access to supportive resources? Does the patient have desired insurance coverage – health, life, long-term disability, long-term care?

Disease Characteristics How common is the neurodegenerative disease in question? Is the condition typically sporadic or inherited? What is the typical inheritance pattern of the disease? What is the typical disease course and does this vary by gene mutation? Is the patient approaching or beyond the typical age of onset of symptoms? Are there options for prevention and surveillance?

Genetic Testing and Counseling Who is the most appropriate clinician to order the genetic testing? What is the positive predictive value of the genetic test? What is the significance of having a gene mutation identified – e.g., is there reduced penetrance, variable expressivity, genotype-phenotype correlations? Will genetic test results impact a patient’s care and management? Will genetic test results impact a patient’s life decisions? Why is the patient seeking genetic testing at this time? Does the patient plan to share results with their health care providers (if ordering DTC) and with other family members? Has the patient been informed about and provided with supportive resources?

Reproduced from Roberts & Uhlmann, 2013