I am very excited to be speaking at the Ethical Issues in Genetics Conference this week at Children’s Hospital Colorado.
Nothing can be more important to a person’s health and identity than an accurate understanding of his/her genetic information. Facts are important and knowledge is power: the power to make decisions.
My interest in genetics is personal. My son has a fatal genetic disorder called Duchenne Muscular Dystrophy. As you all probably know already, Duchenne is caused by a fault on the X chromosome, in the dystrophin gene. A mutation in this area causes the body to be unable to create dystrophin protein, which I often characterize as being like the glue that holds the muscles together. Without dystrophin, muscle tissue gradually degenerates to be replaced by fibrotic material, fatty deposits, and scar tissue. The result is a pervasive, cumulative loss of muscle function which leads in 100% of cases to death at an early age. That’s heavy and the sisters and cousins and aunties of the boys and men with Duchenne are keenly aware of it.
Currently, genetic testing is being withheld from the sisters of boys with Duchenne until they are in their late teens. Parents who seek testing for their daughters are denied on the basis of some false assumptions, both medical and ethical. The result is that many women do not get tested at all. Their medical care is being unnecessarily compromised; their choices unethically influenced by omission.
Let’s talk about medicine first, then ethics. It was long thought that women and girls with X-linked genetic conditions are “unaffected carriers” whose only interest in becoming aware of their carrier status is in relation to childbearing. In Duchenne, we do not have a lot of research about carriers either way, and rightly so. Duchenne kills boys and men. Until we have found a cure for our brothers and uncles and sons, the women of Duchenne are willing to defer our own interests. Research dollars are scarce and precious and we want them to go toward medicine first and foremost. Yet, thanks to the growth of advocacy groups and the internet--the increasingly connected nature of the Duchenne community--we now have a growing body of anecdotal evidence about female carriers of Duchenne Muscular Dystrophy. Some girls have the full-blown condition and experience the same type of morbidity and mortality as their male counterparts. Some women are “manifesting carriers” who exhibit a spectrum of debilitating symptoms over the course of their lives. Why and how this happens is unknown. We see evidence that some carriers are more susceptible to cardiomyopathy symptoms. And some are not. No one knows exactly what is happening there. Now that we are aware of a “cognitive package” in boys and men with Duchenne, we are starting to see stories of women and girls who show similar symptoms: speech delays, reading delays, ADHD symptoms, autism spectrum co-morbidity. Each of these factors is important to the health of a woman or girl carrier of Duchenne completely independent of her childbearing choices. In other words, a girl needs to know about her carrier status so that she can appropriately seek medical care for her own symptoms of body, heart, and mind.
In short, girls are not “unaffected” carriers. We simply do not know what all of the effects of being a carrier of Duchenne are.
Body, heart, and mind have meaning in ethics as well. If we imagine that the only reason a woman needs to know her genetic status is so that she can make decisions about childbearing, we are thinking about real live women and girls—our mothers and sisters—only in relation to the needs of their husbands and sons. It is long since time that such an offensive and false belief was jettisoned. Our society has abandoned the idea that women ought to be owned and controlled by men. It is high time that medicine behaves in ways that are consistent with the belief that women are independent human beings who matter. Women and girls have a genetic interest in their own bodies because they are intrinsically valuable people who are entitled to know the facts about themselves because that information inherently belongs to them. The facts about their own bodies are exclusively owned by that particular woman or girl whose body, heart, and mind we are talking about.
Besides which, the way we are conceptualizing the making of decisions about childbearing is false. A woman does not just wake up one morning when she is 25 years old and think to herself, independently of circumstances in her life, “Time to have a baby. I’d better go get my DNA sequenced to see if I am an unaffected carrier of any life-threatening genetic conditions.” Girls grow up in our society expecting and expected to have children when they grow up, and they know it. Among my friends growing up, it was a frequent topic of conversation from at least as young as 8 years old: How many children are you going to have? What will their names be? I contend that there isn’t a 12 year old girl in America who hasn’t had that conversation in the school yard, even if her answer is zero. She is far more likely to have names for all ten of her future children than to have decided whether she prefers to pursue a career in astrophysics to one as a farmer, actress, teacher, doctor, pilot. And then those girls carry the weight of their childbearing decisions into the rest of their lives. High school girls are both consciously and unconsciously making education and career decisions based on their already-decided childbearing choice: yes or no. If yes, then this thought follows, “I really like my chemistry class, which is fun and fascinating, but it takes twice as much effort than accounting, which is also a fun way to use my math talent. If I go for a career as an accountant, I will have plenty of time and energy to have my kids. If I put all of my effort into science, I’ll still be in grad school until I’m 30, which will limit my ability to have those ten kids I’ve been wanting since second grade. So I don’t mind getting the B in Chem and going for the easier goal. I’ll play math games with my kids in my free time after work.” By the time a young woman is looking for a mate, she has already locked into her career prospects based on her education decisions, based on her childbearing decision made at age 8. She has narrowed her childbearing plans, of course, and they are now no longer about number, but more about an algorithm like this: if no, then no; if yes, then sooner or later. If mate, then sooner. If career, then later. Many talented formerly-potential chemists and doctors have become accountants at age 25 based on their childbearing decisions. Then they seek out genetic information: information with which they would have made different decisions in life, different careers, different mates, different selves with different goals and dreams. They can feel that they have wasted their lives as a result of poor medical care because they did not have the information about their bodies that they needed.
Some women would make the same decisions regardless of their carrier status.
I am equally interested in the woman whose parents told her that she was probably a carrier despite having no information available. Has she avoided personal relationships? Has she made decisions she is proud of, decisions she does not harbor any regrets about? And what if, when she is 42 and recently divorced, perhaps, she gets her genes sequenced for a lark and finds out that she never was a carrier? She could feel a lifetime of regret that will not be assuaged by making new decisions now.
In short, decision-making is complex and people make decisions whether they have the facts they need to make good ones or not. Withholding facts, in this case by denying parents the ability to test their daughters for carrier status in Duchenne, does not make for better decision-making. It does exactly the reverse.
Parents have the responsibility to care for and educate their children. For twenty years and more, we do everything we can to protect and encourage the growth of our children’s bodies, hearts, and minds. We feed them the best food we can afford, buy or make them clothes to protect them from the weather. We attend to their relationships with their peers, siblings, and elders. We encourage them to form emotional and spiritual habits and beliefs to sustain them over the course of their lives. We work hard to promote their education, to provide them with opportunities to succeed in their aspirations and contribute positively to society. We encourage them to seek out facts about the universe and to interpret those facts based on rational, ethical, evaluative and spiritual concerns.
Let us not be afraid of facts. Let us face them as we would encourage our children to face them. Let us use the full force of our value systems to make decisions based on those facts. Let us do so as individual, autonomous human beings whose life decisions matter. Good medical care is like good decision-making: it investigates the facts, names and diagnoses those facts, explores treatment options, and then makes recommendations. Good medical care informs the patient first, then asks him/her to make choices about consent to treatment. In the case of a child, that child’s parents must assume the right to make medical decisions for their child. Good medical care does not seek to control the patient’s ability to make decisions. Failing to inform a patient of the facts of his/her condition is wrong; medical paternalism is illegal, unethical coercion.
Some parents will choose not to test their children because they believe that ignorance is bliss. Or because they prefer to submit their wills to the faith they have in their gods. Some parents will choose not to test their children because they believe that they do not have a right to know their children’s bodies’ innermost truths. This is fine and respectable. They need not test.
But some parents believe that their daughters deserve to know the facts about their bodies early enough that those facts can influence their lives. We should not be held hostage to the beliefs of others. Our girls should be tested when and if we decide they would benefit from the knowledge. For many of us, that benefit cannot arrive too soon, though it can very easily arrive too late.