Determining a drug response: Pharmacogenomic testing can guide dosing and prevent serious adverse reactions

This article appeared in Genome in June 2016

The pain was too intense to ignore. Sixteen years later, Tony Cirrincione still remembers it. He was on a weekend ski trip, and he staggered into the ski lodge, leaving his wife in charge of their son and the five other Cub Scouts they’d brought along. Wincing at the dull ache in his back, he tried to stretch away what had to be a muscle cramp. But the bursts of pain grew only more intense, erupting at more frequent intervals. Soon he was in the passenger seat of their Nissan minivan, the Cub Scouts in back, as his wife raced them to the emergency room at NorthShore University HealthSystem in Chicago. Kidney stones, the nurse declared the moment she saw him doubled over the triage station. Minutes later, he lay on a gurney in the ER, waiting for the prescription opioid Dilaudid (hydromorphone) to take hold. ­But it never did.

As many as 10 percent of people do not receive pain relief from opioids. That’s a staggering statistic in a country where more than 75 million people live with chronic pain. Many individuals, like Cirrincione, who don’t respond to certain prescription pain relievers have no idea why. But a type of genetic testing is bringing answers to a growing number of them.

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Teen suicide: The time for secrecy is over

This article appeared on WebMD.com in July 2017.

July 25, 2017 — As a freshman at Northview High School in Duluth, GA, 15-year-old Will Trautwein was a leader among his army of friends, says his father, John. He had good grades, played lacrosse, and — a skilled pianist and guitarist — wrote music for his band. He was strong, popular, smart and happy, his father says. So, when Will took his own life in October 2010, his parents were shocked.“As far as I was concerned, Will was successful in every aspect of his life. I had no idea about suicide, depression, mental illness,” Trautwein says. “They weren’t in my vocabulary. We had no idea he was struggling in any way.”After his son’s death, Trautwein built his Will to Live Foundation, which supports school suicide awareness and prevention initiatives, “on the concept that it’s easier for kids to talk to their friends than to adults,” he says.

As the rate of teen suicides continues to rise, public officials have been ramping up their prevention efforts as well. With suicides broadcast on social media and programs such as Netflix’s 13 Reasons Why streaming on the devices of America’s teens, the once taboo topic is demanding attention.

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A New Lease on Life: Treatments Are Extending Life Expectancies for Patients With Multiple Myeloma

This article appeared in CURE magazine in March 2016.

Sixty-two-year-old Carolyn Higgins went to see her longtime primary care doctor because something just wasn’t quite right. A self-described type A personality, Higgins was a passionate and energetic saleswoman. She couldn’t wait to knock on the door and shake the hand of her next potential customer. At the end of the day, she didn’t crash on the couch; she took off on a 5-mile walk. Weekends weren’t for lying low either. Off days were about playing with her baby grandchildren and “getting a hundred million things done,” she says.

“And now I do nothing,” Higgins recalls telling her primary care doctor. “I’m lifeless.” Continue reading

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Searching on all fronts: Changing the outlook for those with pancreatic cancer

This article first appeared in CURE magazine in March 2016

Sue Adkins gets two shots, one right after the other, every day. When she’s at the construction company in Whitmore Lake, Michigan, where she’s worked as a bookkeeper for 30 years, her coworker delivers the injection into the back of Adkins’ arm. At home, her husband of 43 years gives her the shot in her abdomen or thigh.

Adkins doesn’t know what’s inside the pre-filled syringes. She is part of a double-blind, randomized, placebo-controlled clinical trial, which means she could be receiving an investigational drug for pancreatic cancer called necuparanib or placebo. Either way, since joining the trial last July — a month after she learned she had stage 4 pancreatic cancer — Adkins’ condition has improved. Continue reading

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A virtual refuge from real pain

This article first appeared on WebMD.com in December 2014.

Dec. 11, 2014 — Luke Moore spent 3 weeks in the burn unit at Harborview Medical Center in Seattle, WA, while he recovered from second- and third-degree burns on his left leg. He had fallen asleep too close to the fire on a September camping trip in the Wenatchee National Forest.For Moore, as for all burn patients, the reality of treatment can be more painful than the burn itself. Even morphine is often not enough.Because of that, some researchers have turned to virtual reality to help patients like Moore control their pain.

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Nobody came for Prince: The death of The Artist and the criminalization of addiction

HuffPo

This op-ed originally appeared on The Huffington Post on June 6, 2016.

Last Thursday the Midwest Medical Examiner’s Office released the report that declared “accidental opioid overdose” as the cause of Prince’s death. The first rumor I heard along those lines – hours or days after his death – I felt that plunging sensation in my chest. That “Please make it not be true” that the heart knows how to scream. I wished for Prince that it could’ve been almost anything but that. Even the conspiracy theorists who cried “murder by the Illuminati” sounded to me like they had dreamed up a better end for him than accidental opioid overdose. Presumably, murder would have put a swifter end to his suffering. Opioid addiction owns you, holds you as its powerless prisoner, for years before it finally lets you go.

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Growing a family tree

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This article, which originally appeared in Genome in December 2015, received a 2015 Award for Excellence in Health Care Journalism from the Association of Health Care Journalists and honorable mention in the 2016 Folio Eddie Awards.

Sonny Varela comes from a Hispanic neighborhood in East Bakersfield, California. The only son of a single mother of mixed Native American and Hispanic heritage, Varela says his numerous first cousins were the brothers and sisters he never had.

Compared to him, Varela’s cousins were short with dark skin. In that part of town, that’s what his friends and classmates looked like, too. Nothing like him. Light-skinned and taller than his relatives, Varela eventually grew a thick, dark beard that reaches down his neck.

“I always thought I looked just like everybody else until I looked in the mirror,” Varela says.

He didn’t look much like his mother or the Hispanic man named as his father on his birth certificate. His so-called father, whom Varela saw infrequently, was short, dark-skinned, and not very hairy. So, Varela wasn’t surprised when he was 12 years old and his mother told him the man wasn’t his father. But she wouldn’t tell him much more.

“I’d say, ‘Just tell me something, anything, about my father,’ and she’d shut down.” All he learned was that his father was a Jewish doctor from Los Angeles with whom she’d had a one-time encounter. At 18 years old, an optimistic Varela showed up at human resources at UCLA Medical Center and asked about doctors who might fit the bill.

“How many Jewish doctors could there be in L.A.?” he wondered.

Almost 20 years later, direct-to-consumer (DTC) DNA tests and social media proved to be just the right tools for a guy who believed he could find a needle in a haystack. Varela, now 36 years old, is among a growing number of people of both known and unknown biological parentage, who are combining these tools to get the information they crave. Genetic testing can tell users what percentage of their DNA matches that of people from all over the world. It can provide information about disease risk — a boon for those who know nothing about family medical history. Testing companies also connect users with any relatives, close or distant, who happen to be in their database. Savvy users might pair this information with social media to find family they never knew. Continue reading

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When cancer runs in the family

Screen Shot 2016-03-30 at 7.44.40 AMThis article originally appeared in Genome in June 2015.

After Lucy Benton completed her breast cancer treatment 16 years ago, she thought she was done with cancer. Then last year, the 68-year-old Texas woman learned she had cancer again. This time it was in her ovaries, not her breast. Because these were two distinct cancers — rather than a recurrence of the same one — Benton’s oncologist recommended genetic testing.

“She said it could determine my current or future treatments. So I decided right away that I was going to do it,” Benton says. She tested positive for a mutation in the BRCA2 gene. Having the mutation increases a woman’s chance of developing breast cancer from 12 percent, which is the average risk any woman has, to about 45 percent. It increases ovarian cancer risk from less than 2 percent to as much as approximately 17 percent.

Having both breast and ovarian cancer, as Benton did, can be a sign of hereditary breast and ovarian cancer (HBOC) syndrome. HBOC syndrome is a genetic risk for breast, ovarian, and other gene mutations that are passed down from one generation to the next. Genetic testing can reveal whether women, as well as men, carry a gene mutation that increases the risk for these cancers. Knowledge of a gene mutation can help individuals and families optimize cancer prevention and treatment.

Researchers believe that about 5 to 10 percent of breast cancers are hereditary. This means the increased risk for cancer is a result of a flaw in a gene, also known as a mutation, inherited from a parent. If a parent has a gene mutation, each child has a 50 percent chance of inheriting it. Several known mutations can increase risk for breast cancer. Mutations in the BRCA1 and BRCA2 genes are currently the most common cause of HBOC. A number of other less common mutations, such as those found in the ATM, PALB2, and CHEK2 genes, among others, can also increase risk for breast and other cancers. Continue reading

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A place for e-cigarettes in smoking cessation

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This article originally appeared in Yale Medicine in Winter 2016. 

In the field of tobacco control, Michael B. Siegel, M.D., is a lone wolf. The Boston University public health professor stands at odds with most of his public health colleagues on one matter: e-cigarettes.

“Why so many public health groups are trying to block them is beyond me,” said Siegel. “Cigarettes are highly toxic and kill 400,000 people a year, while e-cigarettes are not particularly harmful and they’re helping many people quit.”

During his medical internship at Berkshire Medical Center in Pittsfield, Mass., Siegel saw that most people are admitted to the hospital for preventable reasons: smoking, alcohol, drugs, poor diet, and lack of exercise. “We can counsel every patient who walks in the door about smoking,” he said, “but wouldn’t it be more effective to have mass public health campaigns that reduce smoking? You’ll have a much larger impact on the public’s health.” Continue reading

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More than skin deep

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Geneticists view “race” in a far more complex way than the average census taker.

For centuries, authors, researchers, and politicians have tried to use science to classify the “races.” Their attempts have resulted in divisive books, theories such as eugenics, and even genocide. One such book, Nicholas Wade’s 2014 tome A Troublesome Inheritance, inspired over 140 experts in population genetics and human evolution to speak out against it.

Wade, a journalist, used the work of leading geneticists to hypothesize that behavior and IQ, like some physical differences, vary by race as a result of natural selection. The 143 scientists signed a letter condemning the book and said their research did not support his claims that genetics, rather than culture, explains differences in global economies, political structures, and social norms.

Geneticists’ rejection of Wade’s book begs the question: How then did the races come to be? One challenge in addressing that question has to do with the term “race.” Genetically, “races” don’t fall into distinct categories or groups like those on a census survey. Geneticists recognize far more genetic variation among humans than we consciously recognize in the physical differences we see on the street. This diversity tells the story of migration, natural selection, and random chance.

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