Open Access: On Learning I Won’t Die Of My Grandmother’s Disease; The Georgetown Voice, April 7, 2018

Rebecca Zaritsky, The Georgetown Voice; Open Access: On Learning I Won’t Die Of My Grandmother’s Disease

[Kip Currier: This past week's Information Ethics course module explored and reflected on the pluses and minuses of DNA testing. This article is a thought-provoking first-person account of one person's 23andMe DNA test results.

The author raises some positive aspects of genetic testing, as well as some potential downsides. She offers a "go-between" strategy for mitigating those possible impacts, concluding that "It’s not fair to the patients to expose them to information without an explanation."

Lots of practical challenges and legal and ethical questions are raised by the writer's suggested remedy though, regarding who, when, and how someone would make the grey decisions about what constitutes "serious medical information that affects the individual’s life" and what constitutes "non-medical or “trivia” information". Who would bear responsibility for making these "tough calls"? Who or what entities would be charged with oversight and enforcement?

No easy answers. But the author raises important questions for  law- and policymakers, ethicists, and consumers about the implications of this increasingly touted technology and information tool.]

"The results were, generally speaking, good news. A gene for hypertension doesn’t scare me, and if I die of heart disease, at least I’ll still die as me. I was excited, intrigued, and overall relaxed by what I found. In hindsight, I’m only sorry I waited so long.

Still, what if that hadn’t been my experience? What if I did have copies of APOE4, or a mutation in a familial Alzheimer’s gene, or another disorder that nothing could be done about? I could have found out some serious, life-changing information for only $10 and a couple of clicks. Would I have been able to deal with that? I can’t say for certain. Not everyone who does these tests will have the same outcome as I will, and some will undoubtedly find information they weren’t prepared for and didn’t want. If I found out I had a mutation in BRCA, a gene conferring a high-risk for breast cancer, would I have spent my whole life worrying?

More commonly, there’s the potential for misinterpretation."

When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance; New York Times, 3/11/16

Gina Kolata, New York Times; When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance:

"Ms. Watts’s experience highlights an unsettling side to the growing use of genetics in medicine, particularly breast cancer care. Doctors have long been tantalized by a future in which powerful methods of genetic testing would allow treatments to be tailored to a patient’s genetic makeup. Today, in breast cancer treatment, testing of tumors and healthy cells to look for mutations has become standard.

But as Ms. Watts found out, “our ability to sequence genes has gotten ahead of our ability to know what it means,” said Eric P. Winer, the director of the breast oncology program at Harvard’s Dana-Farber Cancer Institute.

The ambiguities and disappointments play out in two areas: There is genetic testing of patients to see if they inherited mutations that predisposed them to cancer, and there is genetic testing of cells from the cancer to look for mutations that drive the tumor’s growth — but if found often cannot be targeted by any drug on the market.

The ability to understand and interpret genetic tests will surely improve. But for now, what sounds like a simple test can leave patients with frightening information but no clear options or guidance for treatment decisions.

“The stakes are very high,” said Dr. Evans, the geneticist who counseled Ms. Watts. “You have inherently nuanced and confusing tests and widespread ordering and interpretation by doctors who aren’t really equipped to do so,” he said. “The situation is ripe for overinterpretation and misinterpretation.”"

Handheld DNA reader revolutionary and democratising, say scientists; Guardian, 10/15/15

Ian Sample, Guardian; Handheld DNA reader revolutionary and democratising, say scientists:

"Ip believes that people will soon be connecting MinIONs to smartphones, and with Oxford Nanopore due to offer a pay-as-you-go pricing model, that could transform access to genetic testing. “If anyone had the ability to do DNA sequencing with a mobile phone with attachable DNA sequencer, what could you do with it?” she said.

If that pans out, the possibilities are almost endless. GPs could analyse patients’ breath to identify bacteria that are making them ill. Health workers could use them to hunt for reservoirs of drug-resistant microbes in hospitals. Animal hairs and skin could be analysed to catch poachers and traffickers of endangered animals. Inspectors at fish markets could verify what fish is being sold. In the water-cooling towers of office buildings, you could install a device to scan for the bacteria that causes Legionnaire’s disease.

But that is not all. “There will be undoubtedly be Gattaca-style apps which, given a hair, will tell you the genetic compatibility of a potential boy or girlfriend, although doing so is fraught with ethical issues of data interpretation,” Ip said."