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Ethics, Genetics, Medicine and Society

Film documents rise and fall of a genome matching service – and poses tough ethical questions

Film documents rise and fall of a genome matching service - and poses tough ethical questions

Jesse_01When I think of “science fiction,” I picture three-eyed aliens with purple-and-gold tentacles — not the disturbing demise of a man, and a company, depicted in the film “The Perfect 46.”

Nor do I expect to ponder the ethics of a company that strives to produce genetically “pure” children.

Yet this is precisely the type of science fiction filmmaker Brett Ryan Bonowicz dished up to a sold-out Stanford crowd last week. Following the film, an all-star panel of genetics experts fielded questions.

The film’s premise is simple, and alluring. People can send their sequenced genome, along with their partner’s,  in to a company called The Perfect 46 and allow its proprietary algorithm to figure out if their children will be born genetic-defect free — or not.

“Jesse [Darden, the company’s CEO] wasn’t going to cure the diseases, he would just breed them out. It made a lot of people uncomfortable,” said one of the characters in the film.

So uncomfortable, in fact, that the company, and its leader Jesse Darden, played with a standout performance by actor Whit Hertford, unravels quite thoroughly – with Darden’s painful personal and professional demise forming the meat of “The Perfect 46’s” somewhat-tortured plot.

For me, the ethical quandary is a no-brainer: perfect – what fun is that? My husband and I are both far from perfect, and if we had a perfect child, it certainly wouldn’t be anything like us.

More seriously, however, the film poses thorny questions about the future of consumer genetics, a boom-and-bust field that’s both promising and terrifying. “The Perfect 46” doesn’t answer these questions, but the post-screening panelists delved into some of them.

During the talk, the experts made  it clear the technology featured in the film isn’t there – yet. Right now, if scientists sequence a genome , they don’t know the meaning of the many versions, or allele , of the gene that pop up. “Often, we don’t know if it’s disease-causing or not,” said panel member Michael Snyder, PhD, Stanford professor and chair of genetics.

Although the film takes place in the “near future,” corporations that provide basic genetic screening are already available, the experts said. And corporations may not be providing adequate counseling for potential parents, panel member Sandra Lee, PhD, a senior researcher at the Stanford Center for Biomedical Ethics, pointed out.

The Stanford-heavy audience seemed to dig the movie, but I thought the film would be more effective if its lessons were a little subtler and its pace a bit quicker.

Still, the questions it asks are real, even pressing, and not science-fictiony at all.

Becky Bach is a former park ranger who now spends her time writing, exploring, or practicing yoga. She’s currently a science writing intern in the medical school’s Office of Communication & Public Affairs.

Previously:Stanford patient on having her genome sequenced: “This is the right thing to do for our family”, Stanford geneticist discusses genomics and medicine in TEDMED talk, New recommendations for genetic disclosure released and A conversation about the benefits and limitations of direct-to-consumer genetic tests
Screenshot of movie courtesy of Clindar

From August 11-25, Scope will be on a limited publishing schedule. During that time, you may also notice a delay in comment moderation. We’ll return to our regular schedule on August 25.

Cancer, Men's Health

Managing a prostate cancer diagnosis: From leader to follower, and back again

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s bonus column comes from patient advocate Jim Rieder.

Caring for others has always been part of my approach to life. I built my career in health care serving as the CEO of a statewide non-profit foundation, in addition to being the CEO of seven diverse types of hospitals. Naturally, I was intimately familiar with the steps necessary for a person to become an empowered patient. But when I was forced into the role of being the patient, the initial transformation was surprisingly more intense and unsettling than I had imagined it would be.

Managing prostate cancer is a battle. Recognize it as such. Invest the time and energy necessary to empower yourself with the knowledge you’ll need to make informed choices about your path of treatment

When a person is diagnosed with any type of cancer, the obvious objective is to get rid of it completely as quickly as possible. After being diagnosed with prostate cancer in 2002 and doing my due diligence, I ultimately decided that a radical prostatectomy was the best course of treatment for me. I had the surgery in 2003, and I’m very happy to report that I’ve been cancer-free ever since. However, it’s important to recognize that there’s not a one-size-fits-all solution for treating prostate cancer.

In response to prostate cancer diagnosis, it’s critical to take a step back, take a few deep breaths, and try to approach the situation calmly and logically. Don’t let anyone rush you. There’s ALWAYS time to evaluate the medical options and get a second opinion from another medical expert who ideally is not affiliated with the same practice as the physician who provided the initial diagnosis or treatment recommendations. Know that watchful waiting or active surveillance can be viable options. Every treatment has side effects, which typically include erectile dysfunction and/or incontinence. The skill of the physician and the amount of experience specific to the procedure being performed are very important in minimizing the presence and ongoing impact of these side effects.

Some guys pursue their treatment and quietly return to business as usual without ever talking about their prostate cancer or its side effects. While I respect the option of maintaining privacy, I encourage anyone who’s facing a diagnosis of prostate cancer to reach out for help from others who have already traveled the same path, and to reciprocate down the line by helping others who will be grappling with the involuntary transition into joining the prostate cancer community. Also recognize that prostate cancer affects spouses or partners, as well as family members. Their support is also very important.

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Cardiovascular Medicine, Research, Stanford News

Study highlights increased risk of death among patients with atrial fibrillation who take digoxin

Study highlights increased risk of death among patients with atrial fibrillation who take digoxin

After a decade of focusing on treatments for heart failure and heart attacks, it’s atrial fibrillation’s turn in the spotlight, said Mintu Turakhia, MD, MAS,  assistant professor of cardiology and director of cardiac electrophysiology for Palo Alto VA Health Care System.

“It’s a huge cost to society and one of the most common inpatient diagnoses,” Turakhia said.

Atrial fibrillation is an irregular and rapid heart rate — caused by spasms of the heart’s upper chambers — that afflicts more than 3 million Americans, increasing their risk of stroke and heart failure. Turakhia and his team planned to dig beneath the surface of atrial fibrillation using data from more than 122,000 patients with recent atrial fibrillation diagnoses in the U.S. Department of Veterans Affairs (VA) health-care system.

They started by examining the efficacy of digoxin, a generic drug derived from the plant foxglove. The results were striking: Patients who received digoxin were 3 percent more likely to die than similar patients.

“The take-home point is to question whether people should really be on this drug,” Turakhia said in a release. “These data challenge the current guidelines.”

Both doctors and patients assumed digoxin was safe because derivatives of foxglove had been used for centuries, not because it had been proven safe or effective, Turakhia said. He said there are many other preferable treatments for atrial fibrillation and he plans to work to standardize treatment for atrial fibrillation in coming years.

“Can we be smarter about how we deliver atrial fibrillation care so it’s delivered efficiently with less variation?” Turakhia asked.

The study will be published in the Aug. 19 issue of the Journal of the American College of Cardiology, which appears online today.

Becky Bach is a former park ranger who now spends her time writing, exploring, or practicing yoga. She’s currently a science writing intern in the medical school’s Office of Communication & Public Affairs.

Previously: Hybrid procedure helps treat difficult cases of atrial fibrillation and Newly approved drug appears to provide more cost-effective stroke prevention than warfarin

From August 11-25, Scope will be on a limited publishing schedule. During that time, you may also notice a delay in comment moderation. We’ll return to our regular schedule on August 25.

Cancer, Genetics, Research, Science, Stanford News

Unraveling the secrets of a common cancer-causing gene

Unraveling the secrets of a common cancer-causing gene

The Myc protein can cause a lot of trouble when it’s mutated or expressed incorrectly. Under those condition it’s called an oncogene, and it’s associated with the development of more than half of all human cancers. But because its cellular influence is vast (it controls the expression of thousands of genes and regulatory molecules), it’s been tough for scientists to learn which of its many effects are cancer-causing.

Now oncologist Dean Felsher, MD, PhD, and his colleagues have found that just a handful of genes are responsible for the Myc oncogene’s devastating outcomes. Their work was published today in Cancer Cell. As I wrote in our release:

The genes identified by the researchers produce proteins that govern whether a cell self-renews by dividing, enters a resting state called senescence or takes itself permanently out of commission through programmed cell suicide. Exquisite control of these processes is necessary to control or eliminate potentially dangerous tumor cells.

In particular, the researchers found that Myc works through a family of regulatory RNA molecules that govern how (and when) tightly packaged genes in the DNA/protein complex called chromatin are made available for transcription into proteins that do much of the work of the cell. Understanding this process might help researchers find ways to throw a molecular wrench into the Myc mechanism.

“One of the biggest unanswered questions in oncology is how oncogenes cause cancer, and whether you can replace an oncogene with another gene product,” Felsher told me. “These experiments begin to reveal how Myc affects the self-renewal decisions of cells. They may also help us target those aspects of Myc overexpression that contribute to the cancer phenotype.”

The reliance of many cancer cells on oncogenes like Myc is called oncogene addiction. In many cases, blocking the expression of an oncogene, or tinkering with its activity, causes cancer cells to stop growing and tumors in animals to regress. Recently Felsher and his colleagues published an article in the Proceedings of the National Academy of Sciences describing how inactivating two oncogenes at once can work better to fight cancer in animal models by making it more difficult for the cancer cells to develop resistance to therapy.

Previously: Tool to identify the origin of certain types of cancer could be a “boon to doctors prescribing therapies” and  Smoking gun or hit-and-run? How oncogenes make good cells go bad

From August 11-25, Scope will be on a limited publishing schedule. During that time, you may also notice a delay in comment moderation. We’ll return to our regular schedule on August 25.

Scope Announcements

Scope is going on summer vacation

beach scene - 560

We’re taking a little break this month; from now until August 25, Scope will be on a limited publishing schedule. During that time, you may also notice a delay in comment moderation.

Photo by Jim Nix

Medical Apps, Stanford News, Technology

A Stanford physician shares his experiences creating evidence-based medical apps

iPad_080814A piece published earlier this week on iMedicalApps spotlights the work of Steven Lin, MD, a clinical instructor in family medicine at Stanford who is the co-creator of two evidence-based medical apps. The first app he helped develop was Ilithyia, a point-of-care clinic prenatal app, and the second is L’Allegro, which helps physicians select the appropriate antidepressant for patients. From the piece:

Dr. Lin first thought about creating an app as an intern when he noted the large gap between what he had learned in medical school and what was happening in practice. He had knowledge but it was often difficult translating that knowledge into point of care practice. He first concentrated on prenatal visits as he wanted to find the evidence base for current practice and make that available to himself as well as his fellow interns.

He started with researching guidelines, community standard of care, and even insurance allowances for visits and labs. He then took this information and made a framework of sorts. Each visit had allotted information- labs, guidance, findings, etc, and this framework became the basis for how he organized his app.

Lin and partner, a programmer who was finishing his final year of high school when they started working together, plan to “work with the Society for Teachers in Family Medicine and plans to create a mobile version of their study cases” for third app.

Previously: Heart bypass or angioplasty? There’s an app for that, A conversation about smart-device use among resident physicians and Stanford AIM Lab launches patient exam iPad app
Photo by Stanford EdTech

Behavioral Science, Health and Fitness, In the News, Pediatrics, Research

Regular exercise may help young girls struggling with depression

Regular exercise may help young girls struggling with depression

Girls running Scope Blog

Staying physically fit may help keep depression at bay for young girls, a study recently presented at the annual meeting of the American Psychological Association in Washington D.C. showed. On Thursday, the findings were reported in an article in U.S. News & World Report that pointed to a trend between fitness levels and depression in sixth grade girls.

“We don’t know exactly why there is a link [between fitness levels and depression], but it’s probably a number of things,” Camilio Ruggero, PhD, lead researcher and assistant professor at the University of North Texas, said in the article. “It might be better self-esteem, healthier weight or getting more positive reinforcements that go along with being active, and/or it could be more biological. We know certain proteins and hormones associated with less depression respond to increased exercise.”

The article goes on to say that the trend between fitness levels and depression in boys was not as statistically significant. Although the findings could not show a direct link between the two, they do suggest that for middle school children, staying active and being physically fit is an important piece of the puzzle for emotional well-being.

Previously: Using fMRI to understand and potentially prevent depression in girls, Yoga classes may boost high school students’ mental well- being and Lucile Packard Children’s Hospital partners with high schools on student mental health programs
Photo by Sangudo

Medicine and Literature, Stanford News

Stanford Medicine magazine in images

Stanford Medicine magazine in images

There were lots of oohs and aahs among my colleagues when we first got our hands on the latest issue of Stanford Medicine. The award-winning magazine always contains good stuff (kudos to editor Rosanne Spector), but we all agreed that the artwork in this issue was particularly strong. Above are some of the more striking images.

Previously: Stanford Medicine magazine opens up the world of surgery
First two images in first row by Max Aguilera-Hellweg; illustration by Gérard Dubois
Illustrations in second row by, from left to right, Jon Han, Tina Berning and Harry Campbell
Images in third row by, from left to right, Jon Han, Max Aguilera-Hellweg and Gérard Dubois

Patient Care, Pediatrics, Stanford News, Videos

Pediatric patients create vibrant mural with help from Hewlett-Packard and DreamWorks Animation

Pediatric patients create vibrant mural with help from Hewlett-Packard and DreamWorks Animation

Here’s a feel-good story that will lift your spirits. Over at Lucile Packard Children’s Hospital Stanford, patients are working with volunteers from Hewlett-Packard and DreamWorks Animation to construct a unique piece of artwork designed digitally or drawn by hand. As described in the above video, the DreamWorks team worked with children in the hospital’s onsite school to create imaginary creatures, and next built a background and composited the patients’ art into a large mural. Then, Hewlett-Packard printed the custom designs onto PVC-free wallpaper. The final mural now hangs in Hewlett-Packard’s Palo Alto headquarters.

Previously: Ensuring young dialysis patients make the grade

Anesthesiology, Medicine and Literature, Neuroscience

Exploring the conscious (and unconscious) brain in every day life

Exploring the conscious (and unconscious) brain in every day life

line of peopleThe first time I fainted, I was seven. I passed out while racing my fellow second-graders across the playground. One minute, I was leading the pack in the race; the next thing I knew, I was lying in the nurse’s office with adult faces hovering all around me. My parents explained to me that I’d lost consciousness – it was like falling asleep for a minute, they told me.

It frustrated me to no end- even as a seven year old – that I didn’t know where that time had gone. Why couldn’t I remember those moments where I collapsed onto the grass and got scooped up by a petrified teacher? I ended up fainting a handful of times over the next few years (luckily doctors chalked it up to nothing more than dehydration and a genetic propensity to faint), and each time I was reminded of that frustration of not being able to grasp what was going on in my brain during those lost minutes.

As a seven-year-old, I didn’t have the chance to call up scientists and ask them to explain the brain to me, so when I started working on a feature article on consciousness for the latest issue of Stanford Medicine magazine, I was thrilled that maybe I’d get that chance to finally answer those questions that had been lingering in my head for decades. What makes the brain go from awake and aware to such a blank state, and then back again?

But it’s not that simple, I learned: There’s no single switch that flips the brain from conscious to unconscious. In fact, consciousness isn’t an on-off switch at all; it’s a whole spectrum of states. Anesthesiologist Bruce MacIver, PhD, pointed me toward this handy chart that shows different levels of consciousness. Each state of consciousness has its own unique place on two scales: physical arousal and mental awareness. As I looked at it, I realized that my experience with altered consciousness wasn’t just limited to my childhood fainting episodes – we all go in and out of multiple states of consciousness on a daily basis, and not only when we fall asleep and wake up.

“If you’re an elite athlete and you get in that so-called ‘zone,’ that’s an altered state of consciousness,” anesthesiologist Divya Chander, MD, PhD, explained to me. I’m no elite athlete, but after talking to Chander, I suddenly started paying attention to those not infrequent times when I “zone out” while driving or exercising. And when I woke up to a noise in my house on a recent night, I immediately noticed my heightened senses – that alertness is an altered state of consciousness too.

“What I’m always hoping is that hearing about this kind of work makes people ask more questions about what it means when they themselves enter different states,” Chander said to me when we talked. Her message was not lost on me; I’ve become an active observer of my shifts in attention and awareness.

My Stanford Medicine story delves much deeper than these observations of daily life, to look at how and why anesthesiologists are probing what it means to be conscious – and how their research could lead to better anesthetic drugs. But I hope that in addition to conveying the science, it also helps readers realize that subtle changes in consciousness happen in your brain all the time.

As for the questions I had as a seven-year-old, they’re not fully answered, but I’ve only gotten more intrigued to know how the brain mediates consciousness, and more excited to follow where this research goes in the future.

Sarah C.P. Williams is an award-winning science writer based in Hawaii, covering biology, chemistry, translational research, medicine, ecology, technology and anything else that catches her eye.

Previously: Stanford Medicine magazine opens up the world of surgery, Your secret mind: A Stanford psychiatrist discusses tapping the motivational unconscious and Researchers gain new insights into state of anesthesia
lllustration by Jon Han

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