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“Three generations of imbeciles are enough,” Supreme Court justice Oliver Wendell Holmes, Jr. wrote in 1927. He thus ruled that 18 year-old Carrie Buck should be sterilized against her will.
In many ways, we have come a long way since then. Clearly, no one advocates forced sterilization for patients.
Yet recent discoveries of genetic mutations associated with autism, while offering hope for finding the causes of this disorder and effective treatments, also pose several critical underlying ethical, legal and social dilemmas that are worth reflecting on.
I am by no means equating Carrie Buck with many individuals today who have autism spectrum disorders. But we must try to avoid ignorance, discrimination, and quick ill-formed conclusions that led to errors in the past.
New genetic discoveries can provide important benefits, but also raise several important questions that need consideration.
Autism affects more than 1% of children. Evidence suggests that it may result from complex interactions between various genetic as well as other biological, and environmental factors (as do many other relatively common disorders).
Initially, scientists thought that most common ailments and traits resulted from single genetic markers. But genetics is turning out to be far more complex. Half of our genetic material is now considered “junk DNA”. In reality, scientists just don’t yet understand what it does.
Unfortunately, headlines in the media still mention “The Stupidity Gene”, “The Alcoholism Gene”, “The Infidelity Gene”, and even “The God Gene”. Private companies sell direct-to-consumer genetic testing, promising valuable information. Alas, much of the information produced provides, at best, only slight increases in predispositions.
Until now, individuals have been able to choose whether to undergo genetic testing, but major medical centers have already begun establishing ‘biobanks’, which will collect and sequence the full genomes of all patients. These biobanks can hopefully lead to “personalized medicine”—allowing doctors to determine for each of us which diseases we are at increased risk of developing, and which medications will be most effective for each of us.
Yet many patient advocates fear discrimination, which can be subtle. People with genetic mutations have told me that they have been “passed over” for promotion at work—not fired, but marginalized.
The discovery of genes associated with autism raises these concerns anew. The Genetic Information Non-discrimination Act (GINA) is designed to try to prevent genetic discrimination in health care, but does not apply to life insurance, disability insurance or long-term care insurance. Currently, life insurers are free to request genetic information, and discriminate as a result.
Schools may learn of, or request genetic test results, and teachers may then discriminate against students with autism-associated mutations – even if the mutation is not predictive (i.e., if some, but not all individuals with the mutation end up having symptoms). Parents may spend less time with a child found to have an autism-associated mutation, than with other offspring.
Genetic information has been introduced into court rooms. The fact that a defendant in a crime has a mutation associated with autism may sway a court in judging guilt, causation, liability, or sentences.
Historically, perceived genetic differences between individuals have been used more nefariously as well—as in the case of Carrie Buck. The Nazis also labeled many individuals as “degenerate”, based on presumed genetics, with horrific results.
This is not to say that these scenarios will necessarily ensue, but we should use the identification of these new genes as an opportunity to act preventively—to increase public and professional understandings about genetics and the complexities involved, and to enact policies to further prevent genetic discrimination. We need to make sure that we avoid mistakes of the past—jumping to conclusions about causes of disease.
Most Americans do not know basic facts about genetics—two-thirds do not know that our genes reside in every cell of our body. Most doctors admit deficits in their understandings of important aspects of genetics. These gaps need to be addressed. But efforts to do so remain limited. In the US, science education, more generally, has been falling.
Further legislation is also urgently needed. GINA is important, but no one law has eliminated discrimination concerning race, gender or disabilities. Despite several important civil rights laws, racism continues. GINA has not yet been tested in court, and does not apply to many realms—life insurance, disability insurance, long term care insurance, and schools. With large biobanks, it is unclear who exactly will have access to detailed genetic information, and leaks could occur. The possibility of genetic discrimination underscores, too, needs for universal health care.
This new research about autism marks a significant milestone, and holds much promise, but also poses potential dangers that we need to consider. We are not prepared for the onslaught of genetic information that all of us—as individuals, family members, health care providers, and a society—will soon be receiving. Increasing our understanding of these issues and the complexities involved, and enacting laws to fully protect against discrimination are vital.
How we—as individuals and as a society—respond to burgeoning genetic discoveries will be as important as these discoveries themselves
