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WHOLE GENOME SEQUENCING FOR CANCER CARE

BY Andrea Mongler

Illustration by Abigail Goh

Three billion is such a large number that it’s hard to fathom.

To put it in perspective:

  • 3 billion seconds is about 95 years
  • If you took 3 billion steps, you could walk around Earth at its equator more than 45 times
  • Stacking 3 billion pennies would result in a tower nearly 3,000 miles tall

Three billion also happens to be the number of DNA building blocks, or base pairs, that make up a human genome. And nearly every single cell in our bodies contains two copies of those 3 billion base pairs.

Together, the base pairs that make up our DNA provide the instructions our bodies need to develop, survive and reproduce. They’re like a massive instruction manual packed into a very tiny space. And reading that instruction manual may be the best way to figure out which cancer patients need aggressive treatments to survive.

Advancing technology

Oncologists have long known that no two cancer patients are alike. While some patients have fast-moving cancers that will lead to death if they’re not treated quickly and aggressively, others have less severe disease that doesn’t require aggressive treatment.

This is why oncologists tailor treatments to individual patients. There’s no one-size-fits-all approach. And since cancer results from genetic mutations, oncologists’ ability to decide on the best treatment for individual patients often hinges on their ability to accurately identify mutations in a patient’s cancer through genetic testing.

The original form of genetic testing, called karyotyping, involves looking at a patient’s chromosomes under a microscope. It’s still in routine use today, and it’s usually combined with other lab tests, which means oncologists need to interpret and integrate a variety of test results. They use these test results to place patients in risk categories and guide treatment decisions.

“Genetic analysis of cancers often requires multiple testing approaches—some that use technology that’s nearly 50 years old,” says David Spencer, MD, PhD, oncologist at the Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine. Spencer also is the medical director of the clinical sequencing facility at Washington University School of Medicine’s Elizabeth H. and James S. McDonnell III Genome Institute. “But if we could quickly obtain a comprehensive genomic profile of a patient up front with one test, it would be a much more effective and efficient way to decide on appropriate treatments.”

Recently, Spencer and colleagues demonstrated that this is possible using a process called whole genome sequencing. Specifically, their research showed that whole genome sequencing is often a more accurate way than conventional testing to stratify patients with acute myeloid leukemia (AML) into risk categories and make treatment decisions accordingly. They also showed that this approach was fast and cost-efficient. Their research holds promise not just for AML patients but also for cancer patients more broadly.

To understand what whole genome sequencing is and why it’s such a promising strategy, it helps to first understand the genome.

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SAVING LIMBS TAKES TEAMWORK, TIME AND TENACITY

SAVING LIMBS TAKES TEAMWORK, TIME AND TENACITY

By Stephanie Stemmler

Noah was just six years old when he walked up behind someone mowing the lawn who didn’t know he was there. In an instant, as the lawnmower was backed up, Noah’s foot was caught underneath it, sharp blades cutting through skin, muscle and bone in his foot and toes. “They told us at the hospital that his foot might have to be amputated,” says Hingst. “We were in total shock.”

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Addressing the Donor Organ Shortage

Addressing the Donor Organ Shortage

BY CONNIE MITCHELL
ILLUSTRATION BY ABIGAIL GOH

They would fill St. Louis’ Busch Stadium more than twice, take every seat in 261 jumbo jets and fill each bed in Barnes-Jewish Hospital 85 times over. They are the more than 108,000 Americans waiting for an organ transplant. And for too many, a donor organ won’t arrive in time.

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MEETING THE CHALLENGES OF PANCREATIC CANCER

MEETING THE CHALLENGES OF PANCREATIC CANCER

BY STEPHANIE STEMMLER

Every few years, as he pursues breakthroughs for one of the world’s most notoriously difficult cancers to treat, William Hawkins, MD, says he feels like the first man who walked on the moon. “When you have an idea, and you test it in the laboratory, and you find a new insight that no one else has known previously, that’s cool,” he says. “It pushes the frontier of cancer research that much closer to effective treatments for my patients. It really is like boldly going where no one has gone before.”

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MENTAL HEALTH AND THE GENDER GAP

MENTAL HEALTH AND THE GENDER GAP

BY ANDREA MONGLER
ILLUSTRATION BY ABIGAIL GOH

Whether it’s monthly menstrual cycles, pregnancy, childbirth or menopause, women’s bodies change a lot over a lifetime. But often, these life changes aren’t just physical. They can affect women’s mental health, too, in ways large and small.

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ADDRESSING DISPARITIES IN CANCER PREVENTION AND CARE IN RURAL COMMUNITIES

ADDRESSING DISPARITIES IN CANCER PREVENTION AND CARE IN RURAL COMMUNITIES

BY KELLY OMAN
PHOTO BY GREGG GOLDMAN

Though people living in rural communities across the United States may be less likely to get cancer, they are more likely than people living in suburbs and cities to die from it. That’s what is known as a health disparity, a term that can sound rather abstract. The problem, however, is anything but.

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TREATING ADDICTION: PREGNANCY AND OPIOIDS

TREATING ADDICTION: PREGNANCY AND OPIOIDS

BY JEN MILLER
PHOTOS BY JAY FRAM

When Jeannie Kelly, MD, MS, a Washington University maternal-fetal medicine specialist at Barnes-Jewish Hospital, first arrived on the medical campus in St. Louis in 2016, she had already seen how opioid use can devastate a community. “I finished my training in Boston, where the opioid epidemic was exploding,” she says. While working there, Kelly saw addiction and overdoses. She was aware of the difficulties and dangers for pregnant women addicted to opioids, and the great risks to their babies. And she wanted to help.

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RACIAL DISPARITY AND INFANT MORTALITY: WHEN DOING EVERYTHING RIGHT ISN’T ENOUGH

RACIAL DISPARITY AND INFANT MORTALITY: WHEN DOING EVERYTHING RIGHT ISN’T ENOUGH

BY ANDREA MONGLER
ILLUSTRATION BY ABIGAIL GOH | PHOTOS BY JAY FRAM

Every year in St. Louis, the infants who die before their first birthday could have one day populated 12 kindergarten classrooms. That’s according to Flourish St. Louis, an infant mortality reduction initiative supported by the Missouri Foundation for Health.

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THE PRESENT AND FUTURE OF DEPRESSION CARE

THE PRESENT AND FUTURE OF DEPRESSION CARE

BY HOLLY EDMISTON
PHOTOS BY JAY FRAM

Most of us have confessed, at one time or another, to feeling depressed. But often what we really mean is: I’m sad. Or maybe, I’m tired. Or bored. Actual depression, also known as major depressive disorder, is more than sad feelings. People living with this disorder may experience, among other symptoms, changes in appetite, suicidal thoughts, difficulty sleeping or oversleeping and a feeling of hopelessness.

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FERTILITY PRESERVATION: WHY, HOW AND WHEN

FERTILITY PRESERVATION: WHY, HOW AND WHEN

BY ANDREA MONGLER
PHOTOS BY JAY FRAM

A little girl has just been diagnosed with cancer, and her parents are facing a new and terrifying reality. Whys and what-ifs dominate their thoughts, and a feeling of helplessness threatens to overwhelm them. They would suffer the disease for her if they could, but they can’t. They would do anything for this to be over, for her to be OK.

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COMPASSION REQUIRES RESILIENCE

COMPASSION REQUIRES RESILIENCE

BY PAM MCGRATH
ILLUSTRATION BY ABIGAIL GOH | PHOTOS BY JAY FRAM

Taking care of sick people is hard. Whether you’re staying home with a kid who has a fever, spending the weekend with a friend and her broken ankle or helping a parent age at home, the task, though done with love and concern, can take a toll.

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EASING THE FINAL JOURNEY

EASING THE FINAL JOURNEY

JO ANN SHROYER
ILLUSTRATION BY ABIGAIL GOH

He was young — still in his 40s — and facing a devastating diagnosis: congestive heart failure that would end his life too soon. Readily admitting that his own lifestyle decisions had brought him to this place, Mr. D (his name has been changed to protect his privacy) suffered from what could only be described as transcendental angst.

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CAR-T IMMUNOTHERAPY: NEW TREATMENT, NEW HOPE

CAR-T IMMUNOTHERAPY: NEW TREATMENT, NEW HOPE

BY JULIA EVANGELOU STRAIT
ILLUSTRATION BY GUNILLA ELAM/ SCIENCE PHOTO LIBRARY

For decades, the list of standard treatments for many blood cancers has remained short and largely unchanged. But now there is a new entry on the list. If chemotherapy and a bone marrow transplant fail to stop the cancer, doctors can harness a type of personalized immunotherapy that trains a person’s own immune system to attack cancer cells.

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STROKE: EVERY SECOND COUNTS

STROKE: EVERY SECOND COUNTS

BY SARI HARRAR

Stroke recovery depends on quick thinking and fast action for everyone involved, from bystander to surgeon. One team of specialists, working to shave minutes off treatment time, has risen to the challenge.

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