How would you handle this case?
Genetic testing for the determinants of cleft lip and palate risk for parents with the disorder, or with one affected child, has been a vital component of craniofacial anomalies family counseling. Following the completion of the Human Genome Project in 2003, the consumer’s capability to acquire vast information on personal genetic data has burgeoned. While the identification of medically important genetic information has opened the door to the salutary promise of personalized medical care and furthered the exploration of genetically linked diseases and disorders, ethical and moral concerns accompany this progress. As with technological advances such as in vitro fertilization, questions of an ethical nature must be addressed.
In the past decade, direct-to-consumer genetic testing (DTC-GT) has resulted in regulatory, scientific, and ethical scrutiny owing to the fact that it bypasses the traditional medical care model of shared decision-making between patient and physician. Not dissimilar to independent laboratory testing for a range of sexually transmitted diseases, for which the information is given to an individual by phone call or on a data sheet without physician counseling regarding interpretation, DTC-GT provides only genetic “risk” information, with no correlation of this “risk” within the total context of the patient’s health status. There is no inherent interpretation of the implications of this information for the individual, especially considering the wide variation in the clinical penetration of certain disorders, as well as the myriad facilitating and suppressive influences of the individual’s health and life on genetically associated disorders.
The testing process is simple: The individual contracts with a company, pays a fee, and then receives a kit that includes a receptacle to fill with the individual’s saliva. Some time after the kit is returned by mail to the company, the individual is given access to the selected information via a secure site with password protection. The processes involved have come under scrutiny in the past by both the scientific community and the federal government. In April 2017, after an extensive regulatory oversight process, the U.S. FDA allowed marketing by 23andMe for its personal genome service, which tests for 10 health conditions of significance. These 10 disorders include Parkinson’s disease and late-onset Alzheimer’s disease.