Since the discovery of the structure of deoxyribonucleic acid (DNA) by Francis Crick and James D. Watson in 1953 the promise of identifying the genetic causes of diseases has tantalized clinicians and researchers. The Human Genome Project, completed in 2003, mapped the entire human genetic structure and only heightened these expectations.
In the last decade, we have discovered genetic variations related to schizophrenia, copy number variations tied to autism and Single Nucleotide Polymorphism (SNPs) that can alter peoples enzyme levels, impacting the way they metabolize (or don’t metabolize) psychotropic medications (see “Letting the Genome Out of the Box.”) The pace at which genomics is becoming a factor in not only the diagnosis and treatment of medical illness, but also mental illness, is both exciting and intimidating.
New positive medical breakthroughs always have a downside. In the case of genetic information, the risk is huge. As progress is made, ethical and legal standards for the use of genetic information should be put in place.
In the short term, people could be discriminated against based on their genetic profiles, particularly in regard to health insurance, which is based on the law of large numbers. Insurance underwriters make rate decisions and eligibility determinations on the basis of probabilities that an individual in a population will or will not have certain problems. If genetic information can be used to determine which individuals have a higher probability of getting a disease, insurers will want to know this.
It is not so farfetched to envision a company choosing not to hire someone who is genetically predisposed to cancer or another medical ailment, nor would it be hard to envision the same scenario for someone predisposed to depression, substance use disorder or even ADHD.
Despite efforts to reduce them, mental illness and addictions carry with them heavy stigmas. While opportunities to diagnose and treat earlier and more effectively could be a result of genomic research, privacy and other considerations are essential if this testing becomes more widespread and common.
In some ways genetic testing is no different than any other testing, but in others it can be more powerful with its predictive ability.
The future is broad and bold, but also precarious.