By Ricki Lewis

While we’re busy debating the pros and cons of clinical genome sequencing and tossing around buzzwords like “personalized” and “translational” medicine, I’ve recently caught some health care providers ignoring the archaic skills of communication and common sense. So while we await genome analysis apps on our smartphones and DNA sequence annotators in our doctors’ offices, here are 3 suggestions on how to provide personalized medicine right now:

1. Read the patient’s chart (paper or digital)

2. Listen to the patient

3. Look at the patient

Disclaimer: Today’s blog is anecdotal and non-scientific, but may identify a trend.

My Missing Thyroid

A few weeks ago, I had a long-overdue check-up, with a nurse practitioner. It was my first visit to the practice, which had provided excellent urgent care.

On the medical history form, I described my circa 1993 thyroid cancer in intimate histological detail: papillary in left lobe, follicular in the right.

The NP spent an impressive 45 minutes asking questions and listening to me – or so I thought. During the brief physical exam, I told her all about my thyroid cancer, my daily Synthroid dose, and even brought her hand to my throat, having noticed that dentists get very excited at my lack of a thyroid gland. No thyroid tests needed, said I. My endocrinologist had recently done them.

So I was surprised when, early the next morning, a Saturday, my cell phone quacked.

“Ricki? This is the nurse practitioner. I’m afraid something very alarming has turned up in your bloodwork.”

I braced myself.

“Your thyroid hormone is very low.”

Imagine that!

“Could that possibly be because I take a pill every morning to account for the fact that my thyroid gland has not been part of me for 20 years?” Had she read the chart, where she herself had typed in the cancer info and I’d written it? Did she recall palpating my glandless neck? And why didn’t my health insurer note the duplicated blood test?

“OK. Let’s move on to your LDL. It’s too high.”

Genetic counselors are experts in listening, documenting, recalling, and making important clinical connections. (NHGRI)

Actually, it wasn’t, considering the family history of zero cardiovascular disease that she had neglected to inquire about.

Happily, my HDL was just fine, but she didn’t appreciate my pointing out that HDL is no longer considered a valid biomarker for everyone — geneticists noticed years ago that quite a few families with perfectly good tickers have low (supposedly high-risk) HDL. I’m not going to link to it because the news is pervasive on the Internet. I’ve already altered my textbooks.

Still, she wanted me on a statin, stat, perturbed at my refusal to sign up for a lifetime on a drug that I didn’t need. (Within a few seconds of ending the call, I found a blog by an MD, from 2007, warning of the dangers of statins and providing cases of exactly who shouldn’t be on them. Minus a few years, the “60 year-old woman who is trim, exercises daily, does not smoke, and has no family history of heart disease = no cholesterol-lowering medication” was me.)

Time to switch gears.

“You should begin an exercise program,” the NP helpfully suggested.

“Is the 60 to 90 minutes a day I told you about not enough?”

“Hmmm. Well, you need a low-fat diet to lower your cholesterol.”

I nicely reminded her that she might require a refresher on basic biochemistry if she thought eating less cholesterol lowers cholesterol. It doesn’t work that way. My 10-year low-carb diet made the most sense. The low-fat diet she suggested was exactly what not to do.

I could have chalked up this forgetfulness to a packed schedule, too many patients to recall details, but she spent 45 minutes with me – she probably saw only a handful of patients a day. And she could have at least opened the chart before she called me with potentially upsetting news.

Burying one’s head in a laptop whilst the patient sits there, in the glamorous paper gown, can be a problem too.

Soon after my encounter with the NP, I took my mother-in-law to the cardiologist. After the requisite long wait, we went into an examining room for another wait, and finally the snazzily-dressed doctor rushed into the exam room, pulled up a stool, and proceeded to become one with his laptop. Tapping away, he fired incomprehensible drug and disease names at his elderly patient. He never looked up. And he yammered on about the importance of high HDL, too. I could have sat there with a water buffalo instead of my mother-in-law and he probably wouldn’t have noticed anything amiss until the 2-minute physical exam.

Look at the patient. Engage.

And then there’s the fictional example of young Dr. Gorgeous on the new medical drama “Monday Mornings” who, in the debut episode, let a boy bleed out on the operating table from an inherited clotting disorder, having forgotten to query the single mom about the father’s medical history. Oops.

Ignored Out-of-Control Blood Sugar

The worst example of physician cluelessness happened to a friend I’ll call Karen, who recently had weight loss surgery. This is not a cosmetic procedure. In many people, the surgery ends years of diabetes, polycystic ovarian syndrome, hypertension, even depression.

Karen checked out several offerings. A program at a local hospital seemed so eager to sign her up that it felt like a drive-through. She finally found a bariatric “center of excellence” near her home in a large, midwestern city. She respected the tough requirements: lose 5% of her body weight, and keep her blood sugar down. Specifically, that meant maintaining her A1C level at 7 or below. A1C measures how much blood sugar is carried attached to hemoglobin, the oxygen-carrying proteins packed into red blood cells. Because a red blood cell lives approximately 3 months, the A1C test is repeated every 3 months.

Karen’s A1C rose a bit last August. Too many barbecues, maybe.

“Oh, don’t worry,” chirped the endocrinologist, clutching the chart, unopened, sitting in front of her laptop, also unopened. “If it’s high again, just let me know, I can help. Meanwhile, take two more meds, and up the other one. I’ll email it to your pharmacy.” Tap tap tap.

No one seemed overly concerned with the A1C, because six weeks later, Karen had the all-important appointment with the surgeon, to get “the date.”

First, an intern flounced into the room and pulled up a stool. She sat down, a paper chart on her lap, unopened. A laptop next to her, unopened. The newbie doctor asked a few condescending questions to determine whether Karen was a moron or not and actually knew what the various weight loss surgeries — band, sleeve, bypass — entailed. She did. So the intern launched into a lecture about how sometimes the doc has to remove the gallbladder during the surgery.

Much as I had to remind my NP that I had no thyroid, Karen had to fill the intern in on that fact that her gallbladder had exited her body some 8 years previously. Karen, realizing the doctor was still in training, suggested that perhaps she consider actually reading a patient’s chart beforehand. What a concept!

Deer-in-the-headlights, the flustered intern raced out, without asking the important questions, for her job was to screen the patients to save the surgeon time. How much weight have you lost? What’s your most recent A1C? It was all there in the chart.

Then the surgeon came in. Very serious. He, too, held a chart, unopened. After a brief speech comparing the surgical options, he gave Karen the thumbs-up, and off she happily trooped to pick the date. She assumed he and the nurse with the scheduling calendar knew her A1C. He seemingly assumed the intern, his screener, had no objections to the A1C. She’d passed!

Karen was so excited. The countdown began to the surgery, which would be in December. The diet and exercise continued.

And then Karen had routine bloodwork, her red blood cells having recycled themselves, the hemoglobin within hopefully free of the offending sugar. Shortly after, the bariatric center called. The surgeon had canceled her surgery. Her A1C was too high.

Her A1C was, in fact, just a drop lower than it had been on the day that the surgeon had given her the go-ahead. Had he, or his biliarily-obsessed underling, so much as glanced at the chart, no date would have been bestowed. No apology for the setback.

Karen was devastated, but at first hopeful. “Remember, the endocrinologist said she’d help!” Karen cried to me over the phone.

So she emailed the doc, called, and tried to get her next appointment moved up. She got nowhere. No answers.

Time passed. Finally, the next endocrinology appointment rolled around, which was, in happier times, supposed to be the pre-op check-up.

After the requisite hour-long wait, for no apparent reason and without explanation or apology, the endocrinologist bustled into the room, holding an unopened chart.

“How are you doing?” Big smile. She sat down on the ever-present bewheeled stool, opened her laptop, and then noticed Karen’s uncharacteristic silence.

“How are things?” she tried again.

“Terrible,” said Karen, starting to cry. Her story spilled out. “Why didn’t you answer my email? Return my phone calls?”

The doctor quickly scanned her email and claimed never to have seen any messages. Not true, Karen later deduced. It’s easy enough to check.

“Oh, but look! This is your pre-op visit!”

The doc was still utterly confused, until Karen pointed out, again, that the problem was the A1C. When the doctor launched into the familiar litany of upping the non-insulin meds, with no obvious concern about the potential dangers of taking drugs for many months that didn’t do anything, a strategy that would delay the surgery at least another three months as a new generation of red blood cells formed from reticulocytes extruding their nuclei, Karen had had enough.

“Give. Me. Insulin. NOW.”

The doctor readily agreed, scurried out of the room purportedly to figure out how she had not known of this disaster, and a nice nurse came in to demonstrate insulin injections. Karen learned more in 5 minutes from the nurse/diabetes educator than she had with any physician she’d encountered during her long journey to weight loss surgery.

Read the Chart!

Theoretically, electronic medical records are a great idea, having a patient’s information instantly available on a laptop or tablet. But as I’ve learned from writing textbooks, you lose something in being restricted to seeing one page at a time – you learn more when pages are compared on real paper, in real space. At the ob/gyn practice where I do genetic counseling, we switched to electronic records a few years ago – but practically, we still use paper charts. Otherwise, you can miss things.

A timeless type of medical chart, the pedigree.

In those medical charts, electronic or dead tree, the family history is of paramount importance. This is hardly a new concept, and family histories are certainly stressed early on in medical school, as anyone who’s been examined at a teaching hospital can attest. But somewhere along the way, amidst all the new tests and technologies, the biotech bells and whistles, the importance of the history fades.

Maybe the new genomics will bring back both the family history and the pedigree.

Posed Alan Guttmacher, MD, Francis Collins, MD, PhD, and Richard Carmona, MD, MPH, in “The Family History – More Important Than Ever” in The New England Journal of Medicine, “Will the family history eventually become a relic of antiquated medical practice that has been replaced by more ‘modern’ tools? For instance, in a decade or so, when sequencing a patient’s genome may cost less than $1,000, will it still be worth a practitioner’s time to obtain the less precise information contained in a family history? We think so.”

That was written in November 2004, so the decade’s almost up. Genome sequencing is here, arriving faster than expected, with cost plummeting. But our genome information will only be actionable in a piecemeal fashion, until we understand all gene-gene and gene-environment interactions, and all the variations therein. Family history will be crucial to the interpretation, for it provides the context without which identifying gene variants may be meaningless. Even tragic.

Reading the chart, especially the family history, can provide valuable clues – as can what the patient says, and how she says it.

Let’s bring common sense and intuition back to the practice of medicine.

Ricki Lewis, PhD is a science writer with a PhD in genetics. She blogs regularly at DNAScience, part of the PLOS Blog Network. The author of several textbooks and thousands of articles in scientific, medical, and consumer publications, Ricki’s first narrative nonfiction book, “The Forever Fix: Gene Therapy and the Boy Who Saved It,” was published by St. Martin’s Press in March 2012. This post originally appeared in Patient POV.