Life with Turner syndrome: Education and support are essential

by Stephanie Meredith

In a recent article, “POV: My Life with Turner Syndrome (TS): Genetic screening does not necessarily predict the future,” Caitlin Bawn writes about her experience growing up with TS and her concerns about screening that can detect the condition prenatally. She worries that pregnant women undergoing prenatal screening will not receive information about the spectrum of outcomes for girls with TS as they are making reproductive decisions. While Bawn’s story focuses on Turner syndrome, she touches on a key issue with prenatal screening for a range of conditions as increasing numbers of expectant parents and providers are put in the position of figuring out what a diagnosis means.

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Conflicts of interest and appearances

Robert Resta recently discussed the issue of genetic counselors who have financial conflicts of interest, in a blog post called Appearances are Important. His is a useful response from the genetic counseling profession to Beth Daley’s recent article, After Angry Moms Fault Counseling, Genetics Society Cites Its Ethics Code.

Resta makes several helpful suggestions to address the issue of conflicts of interest in the genetic counseling profession. Chief among them is transparency in the NSGC and ABGC directories of genetic counselors, clearly noting where financial relationships between genetic counselors and labs exist, particularly when genetic counselors are employed by a lab but work in a clinic counseling patients. Such disclosures are voluntary now, as Resta notes: the Affordable Care Act requires such financial transparency of physicians but not of genetic counselors. But requesting financial disclosures of certified genetic counselors would help the profession to maintain public trust, and would likely cause individual genetic counselors to consider their own financial relationships a bit more carefully.

It is important to clarify, however, that the issue at stake is not “appearance of financial conflict of interest.” From a bioethical and a regulatory standpoint, a financial relationship with an entity whose interests differ from those of one’s primary duties is, by definition, a conflict of interest–pure and simple. The term “conflict of interest” sounds accusatory, but it is important to remember that conflicts of interest are not, in and of themselves, an ethical or regulatory transgression: we all have them. For example, the interest academics have in getting published conflicts with the interest we have in doing careful and ethically sound research, because it takes more time to do things that way. The interest clinicians have in helping their patients make careful and informed decisions conflicts with the limited time for which they are reimbursed for each clinical encounter.

The reason clinicians and researchers should disclose financial relationships is because those are real conflicts of interest, not “potential” or “apparent” ones. Even if those financial relationships are small (like a speaker fee), they can add up, particularly in the absence of transparency. Such concerns also underlie bans on pharmaceutical swag at medical institutions, because research has shown that even pens and notepads, “gifts of negligible value can influence the behavior of the recipient in ways the recipient does not always realize.”

Yes, appearances are important. But financial conflicts of interest, though fairly new to the genetic counseling profession, are also very real, and transparency is an important part of clinicians’ efforts to keep their focus on their patients–and maintain their hard-won trust.

Should prenatal testing be used to detect intersex conditions?

Celeste Orr writes in The Guardian that disorders of sex should not be a legitimate target of prenatal screening using PGD or genetic screening. Scientists in the UK have already introduced noninvasive genetic screening for congenital adrenal hyperplasia (CAH), one of the more common intersex disorders, on a research protocol.

Eliminating intersex babies is not a legitimate use of genetic embryo testing:It is done to reinforce the inadequate sex binary and even to police non-heterosexual, queer attractions or acts.