personalized medicine

That quote is from Misha Angrist, about the coming genetic interpretation industry. It's part of an essay by Virginia Hughes, in Slate: "It’s Time To Stop Obsessing About the Dangers of Genetic Information". The essay will be worth discussion in courses that focus on human genetics. It ties together several claims: (1) widespread whole-genome testing is inevitable and nearly at hand, (2) social science research shows that people don't have increased anxiety or other negative reactions when they learn about health risks from genetics, and (3) medical professionals are not prepared for this near-future.

I don't endorse all the conclusions but Hughes expresses many aspects of the story clearly. For example, this passage on "informed consent" as applied to whole genomes:

The first problem boils down to the concept of “informed consent,” which usually means page after page of consent forms outlining the rights of a patient or research volunteer. (Whenever I talk to researchers about informed consent, they invariably compare it to the iTunes user agreement, where everybody checks the little box without reading the text.) Genome sequencing is so new that informed consent doesn’t always happen, resulting in doctors ordering tests without asking people ahead of time about what to do with the results.

Asking people what they want to know is tricky because you don’t know what will be relevant before you look at the data, notes Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. “It’s impossible at the front end to go through every possible piece of information they’d get back and ask them how they’d feel about that.”

Again, I've discussed these issues with many geneticists and I am continually surprised at how far behind most of them are in understanding what people are already learning about their own genetics.

In all the stories about the lowering cost of DNA sequencing, this NY Times contribution has to be the most heartbreaking: "Infant DNA Tests Speed Diagnosis of Rare Diseases". Yes, I know it doesn't sound like a heartbreaking headline, but the article is about end-of-life decisions for infants with undiagnosable congenital disorders.

Although genetic causes for the diseases were found in three of the four babies, the diseases had no treatments — except for surgery for the brothers — and that baby was the only one who survived.

The biggest surprise for Dr. Kingsmore, though, was that the families greatly valued having a diagnosis.

When a baby has a mysterious disease, he said, the family often embarks on a terrifying diagnostic odyssey. “Test after test is performed,” he said. “Some tests are invasive; the child is suffering. The child is getting worse and worse — most spend their entire lives in the hospital, and there is no answer.”

Just knowing the answer can be a comfort. “Providing a definitive diagnosis somehow brings closure,” Dr. Kingsmore said. “It is something they can name.”

Sequencing today is still quite expensive, and interpretation still is usually uncertain. These factors make some skeptics question whether whole-genome sequencing will ever find effective clinical applications.

The article describes a proof-of-concept study in which rapid whole-genome sequencing was applied to clinical pediatric cases, in some cases retrospectively. That area of medicine puts the question of cost and benefits of sequencing in a very different light: A day in newborn intensive care can cost $8000, at present the testing costs $13,500. Accurate information about a fatal genetic disorder can help parents and doctors call off heroic efforts, prevent extraneous and sometimes painful forms of non-genetic testing, and assure them that they have done everything possible for a child.

This is the hard edge of personalized genomics. It's not about whether you should cut back on LDL to lower your long-term cardiac risk. It's about when to end care of babies with no treatment options.