The Atlantic, May 11, 2017
Sarah Zhang

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[...] Rieke’s doctor, Jewel Samadder, thinks she was originally tested as part of a research study because it did not show up in her medical records. (Though her other doctors were somehow aware of her Lynch syndrome diagnosis. It’s been so long, no one is quite sure how.) “The problem is research labs don’t have quality assurance. They’re in their own lab with a cookbook recipe,” Samadder said. Research studies can involve hundreds if not thousands of samples, and those labs do not have the detailed sample tracking required of commercial labs. That’s why Samadder ordered up another test, this time with a commercial lab regulated by the Clinical Laboratory Improvement Amendments (CLIA).  All U.S. labs that provide results for patient care must be CLIA certified.

Rieke’s situation is rare but not unheard of. Samadder mentioned another case he knows of where two brothers had their samples mixed up—the one who had a mutation thought he did not and vice versa.

These cases land in the middle of a contentious ethical debate. When scientists began enrolling volunteers for studies into the genetic causes of disease, they grappled with how to tell participants if they found a potentially deadly mutation. For the most part, scientists felt an ethical obligation to inform volunteers. Knowledge is power when it comes to preventable diseases like cancer. It makes sense why doctors would want to inform a patient about her Lynch syndrome diagnosis.

But the specific question of whether results from non-CLIA-certified research labs should be revealed remains controversial. “It’s the big one,” says Richard Fabsitz, who convened a working group at the National Heart, Lung, and Blood Institute to create guidelines for returning genetic-research results.  “That’s what took us so long to write our report.” That 2010 report leaves the question unanswered. [...]

bioethics biotechnology genetics health law policy human rights human subjects research human tissue regulation research