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Demystifying Medicine One Month at a Time

Category: genetics

Biggest Health Stories of 2018

Happy New Year, GlassHospital readers.

The year’s end provides the opportunity to reflect on the year that was.

These few stories stuck out as some of the most impactful of the year–and what they portend for the future:

1. Gene editing: In November, at the International Summit on Human Genome Editing in Hong Kong, Chinese biologist He Jiankui shocked the world with his announcement that he had manipulated at least two embryos to change a trait (or more??) in twin baby girls. The reaction was mostly critical, including calls for a moratorium on the use of CRISPR gene-editing in humans.

The upshot: stories like this will be with us for the foreseeable future. While the power of CRISPR to remedy harmful genetic conditions seems hopeful and fantastic, there’s a whole history of eugenics movements that should guide us to avoid the hubris of selecting for ‘desirable’ traits in humans.

2. #ThisisOurLane: Also in November, an NRA staffer (to this point unknown) tweeted a response to an article in the Annals of Internal Medicine recommending that doctors ask patients about gun use and safety as a health measure. The tweet infamously suggested, “someone should tell self-important anti-gun doctors to stay in their lane.” This was met with a firestorm of response from doctors across the spectrum, particularly those that care for gunshot victims (ER docs, surgeons, etc.) who tweeted under the hashtag #ThisIsOurLane.

The upshot: It’s hard to quantify the cumulative impact of the conflict, which is sure to go on, but the Justice Department did just ban bump stocks.

3. Bill of the Month: NPR, in conjunction with Kaiser Health News, started a monthly series examining outrageous and inexplicable health care bills. It’s been one of their (repeatedly) biggest stories of the year, as exemplified by the (insured!) Texas teacher who faced a $108,951 hospital bill after treatment for a heart attack (he was taken by ambulance to an out-of-network hospital–hardly the time, it seems, to price compare).

The good news: His bill was lowered to $332 after the glare of national media attention.

Alex says, “I ALWAYS look to GlassHospital for keen insights.”

Hope

Amidst the weekly deluge of health and medicine stories, one from last week stood out.

Too often, news reports of “the latest and greatest” in medicine are overhyped. Here, the news wave was started by a case report that appeared in the New England Journal of Medicine.Genetictesting

The two best media accounts that explain what happened are here and here.

A quick summary: a 14 year-old Wisconsin boy lay in a coma in a hospital intensive care unit. The diagnosis was encephalitis, inflammation of the brain. All of the standard tests of blood, urine, spinal fluid, and even a brain biopsy (!) did not yield a cause of the illness.

This is not unusual—in both persistent fevers (medicalese: “Fever of Unknown Origin”) and severe bloodstream infections (medicalese: “Sepsis”) we are unable to find the exact pathogen more than half the time. Without knowing the precise cause, we often carpet bomb patients with several antibiotics and other medications trying to save them. But when the cause is known, we can target the treatment more precisely, greatly increasing the chance of recovery and diminishing the likelihood of harm.

The doctors in Wisconsin sent a sample of the boy’s blood and spinal fluid to a lab in California that performed “Next Generation Sequencing,” which involves using massive computational power to essentially compare genetic material in the fluids to thousands of known genetic sequences of different bacteria, viruses and fungi. They found a strong positive match to a bacterium known as Leptospira santarosai, which amazingly, is fully sensitive to good old penicillin.

Voila! The kid got better.

The innovation here is being able to rapidly pattern-match DNA sequences instead of the time-honored way we usually plod along, trying to ‘culture’ microorganisms in incubators (essentially growing them out of patients’ blood, urine, or spinal fluid samples).

I’m usually skeptical of claims made about technological innovation in health care, but to me this story has the hallmarks of a true game changer.

23 & You

Imagine there was foolproof test that could tell you if you had any illness at all.

[Picture Dr. Crusher from Star Trek-TNG and her little handheld that she could wave over you to make a diagnosis. Yeah. That’d be useful.]

May the time not be too distant...

Perhaps you’ve heard how lousy some of the tests we currently use in medicine are for detecting disease: There are false positives and negatives (e.g. mammograms and PSA tests), they are often inconvenient (e.g. colonoscopies and PAP smears), and often we don’t really know the best thing to do with a given result (e.g. should all patients with osteoporosis be on a drug like fosamax?).

Though it hasn’t reached the proverbial tipping point, we have already entered a whole new era. Cue the cliche music.

For what seems an ever-decreasing cost (it was thousands, then hundreds, recently $499, now $199) you can literally spit into a test tube and get your own genetic information from several different commercial companies. There are many novel aspects to this trade:

  1. The direct-to-consumer nature of these businesses bypasses the ‘medical establishment’ (i.e. your doctor or ‘medical home’) entirely.
  2. The amount of information you get is truly astounding. Overwhelming, in fact.
  3. The information is ‘actionable intelligence’ that allows you to make health decisions to prevent disease before it manifests.
  4. By undergoing such an analysis, the possibility of developing more tailored treatment exists (i.e. medication that specifically targets your disease).
  5. You can learn the truth. The painful truth. About yourself. About your lineage (are those your real parents?).

Before taking the plunge, read up on genetic testing and decide if it’s right for you. Though the promise of prevention and good health exists, you’re far more likely to come away with more questions than you do answers. The tests show tendencies (or ‘potential susceptibilities’); they are not of a binary yes/no, ‘disease or not’ nature. This can be frustrating. And once you learn about your genetics, there’s no turning back. Knowledge is power, but it also brings responsibility.

As I alluded to above, sometimes the information revealed can shake up perceptions of the self. And since there’s no doctor or genetic counselor between you and this information, it can difficult to interpret. And I took a course in this stuff.

There are a lot of questions out there that make genetic testing still something of a Wild West in medicine. Among them:

1. Should commercial direct-to-consumer genetic tests be subject to regulation by the FDA?

2. Walgreen’s was planning to sell a $20 retail kit that consumers could buy and send in. The kits never reached the shelves. What happened?

3. How safe and private is your genetic information? Can it be used against you, to deny you health coverage or life insurance? What are your rights with regard to knowledge about your own genome?

Fortunately, there is a federal law known as GINA: The Genetic Information Nondiscrimination Act (2008), which makes it illegal to discriminate in hiring or providing health insurance to an American because of his or her genetics.

Any readers out there that have used one of these services? Would you be willing to share your feelings about the experience?

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