The field of genetics is advancing more rapidly than ever, and so are the available technologies we can use to understand our DNA. While some mysteries of heredity remain to be solved, genetic experts can now shine a light on an unprecedented amount of information. This knowledge can be empowering and can expand patient autonomy – the ability to make informed choices regarding the future. But decoding DNA presents new conflicts and challenges as well, especially for communities that fall outside of the norm.
More Knowledge, More Complex Choices
Consider the following scenario: you are a reproductive genetic counselor who is meeting with a couple about to undergo an IVF cycle. The couple has decided to do a genetic screening of an embryo they are considering for implantation. When reviewing the screen, you discover that the embryo has tested positive for a condition that causes congenital blindness, meaning that if the couple decides to proceed with that embryo, they will likely give birth to a blind child. What should the couple do with that information? What would you do?
Dr. Arielle Silverman, a disability advocate with congenital blindness, has considered a similar hypothetical scenario. While genetic testing was not capable of detecting the condition that caused her blindness when she was born, it can now. If her parents knew of her blindness before she was born, would she still exist?
As evidenced by situations like this, reproductive genetic counselors have found themselves in the difficult position of championing patient autonomy while simultaneously advocating for disability communities. To make headway in tackling the complex issues that advancing genetic technology raises, we should first seek to understand disability communities by amplifying their voices.
Enter Dr. Silverman
Dr. Arielle Silverman self identifies as a disabled activist and social scientist on a “mission to find and remove the unnecessary barriers keeping people with disabilities from reaching their potential.” In her memoir Just Human, Dr. Silverman offers valuable insight into what it is like to be considered disabled in an abled world, and lessons on how abled people can better understand and be allies to communities that are different from their own.
One of the first of these lessons covered by Dr. Silverman in Just Human is that we should strive to broaden our definition of genetic diversity. Dr. Silverman points out that while we currently view factors such as varying eye color and hair color as acceptable forms of genetic diversity, we view disabilities as anomalies or mistakes. However, the Centers for Disease Control and Prevention (CDC) reports that 1 in 5 Americans qualify as having a disability. Why, then, are we despaired or surprised when a disabled child is born, when every child has a 20% chance of developing a disability at some point in their lifetime? Dr. Silverman urges us to reconsider what it means to be a healthy baby and hopes that we come to a place where every birth is viewed as an “unquestionable gain.”
Another valuable insight that Dr. Silverman offers is the idea of “disability wisdom.” By the early age of 10, Dr. Silverman was already dealing with the otherness that abled society assigned to her due to her blindness and journaled about it, writing:
“Blindness is a trying world when people console me and produce a friendship with me because they pity me for being blind. One must love me for my accomplishments and gifts. Blindness is like a thick layer of sand hiding the many gifts which lay underneath. My real friends are good archeologists, and excavate my world, but others give up right away because I am blind and they see nothing but my faults.”
Arielle says that the people she calls “the wise” are “good archeologists” who “regard the person as a full and equal human being” and are “not put off by the thick layer of stigma our society likes to bury people in.” Genetic counselors, patients, and members of society at large should strive to be these good archeologists, taking the time to understand people with disabilities as people first and foremost. We should neither place them on a pedestal as inspirations, nor assume that their disability bars them from being valued members of society. Good archeologists know that people with disabilities are “just human,” as the name of Dr. Silverman’s memoir highlights. Accordingly, we should recognize and strive to protect their best interests just as we would our own.
The final lesson that we will discuss is Dr. Silverman’s assertion that disabled individuals are “experts in their own needs.” This means that regardless of how good of an archeologist you consider yourself to be, you cannot speak for the disability community or claim to know what is best for them. Only the disabled individual truly knows what is best for themselves.
This can be seen in attempts to simulate blindness in sighted people. As Dr. Silverman explains, rather than foster productive empathy, simulations of blindness can promote pity and more discriminatory attitudes towards the blind community. In Dr. Silverman’s own research, participants who completed tasks while blindfolded were more likely to say that they thought that blind people were less capable and would do anything to have sight, compared to control participants who completed tasks with sight and those who did not complete tasks at all. It is important to remember that we cannot truly emulate what it is like to be in someone else’s shoes, so we should listen to them when they tell us what they need.
Good Archeology and Genetic Counseling
Taking the insights of Dr. Silverman into account, how can genetic counselors and their patients ensure that they are being “good archeologists,” when our practice runs the threat of preventing disabled people from being born? With technologies including Preimplantation Genetic Testing (PGT) and widening genetic screens, we are becoming more and more capable of identifying potential members of the disability community in utero or even earlier. Patients and counselors are now put into an extremely difficult place with this knowledge, and there is no easy answer or solution.
Dr. Silverman, though a staunch advocate for disability rights and inclusion, maintains the importance of patient autonomy in the consideration of genetic screening results. While she believes that every birth is an unquestionable gain, she also believes that no parent should be forced to raise a child with a disability if they choose not to. However, she hopes that the tense bridge between the abled and disabled world becomes more seamless with time, advocacy, and education so that parents are more open to the disability experience. Her company, Disability Wisdom Consulting, aims to do just that by teaching the abled world more about the archeology of disability communities.
Perhaps it all comes down to this: we are all more alike than we are different. We should all try our best to craft a world where this fundamentally connects us all, as just human.