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Big data, Ethics, Genetics, Science Policy, Stanford News

Stanford panel: Big issues will loom when everyone has their genomic sequence on a thumb drive

Stanford panel: Big issues will loom when everyone has their genomic sequence on a thumb drive

When I was a biology grad student in the early 1980s, we used to joke about people who were getting their PhDs by spending six long years sequencing a single gene. They worked around the clock seven days a week – and seven nights, too, sleeping on their lab benches when they slept at all.

A few years later the Human Genome Project came along and sped things up quite a bit. But it still took 13 years and a billion dollars to fully sequence a single human genome.

It’s a different story now. With a one-day, $1,000 genome sequence in sight, a 20-minute, $100 sequence can’t be far off. It appears that within 15 years or so, the average individual’s genomic sequence will be just another lengthy, standard supplemental addition to that person’s electronic medical record.

That raises a lot of questions. Last Saturday, I had the great privilege of asking a few of them to a panel of three tier-one Stanford experts: Mildred Cho, PhD, associate director of the Stanford Center for Biomedical Ethics; Hank Greely, JD, director of the Center for Law and the Biosciences, and Mike Snyder, MD, PhD, chair of Stanford’s genetics department and director of the Center for Genomics and Personalized Medicine. (I was the moderator.)

The panel, titled “Genetic Privacy: The Right (Not) to Know,” was a lively one, part of a day-long Alumni Day event sponsored by the Stanford Medical Center Alumni Association. (Here’s a link to the video above). Cho, Greely and Snyder have their own well-developed perspectives and policy preferences on the utility of mass genomic-sequence availability, and they articulated those views with passion and aplomb.

The 300 people in the audience, most of them doctors, had plenty of questions of their own. Several were ones I’d hoped to ask but hadn’t had time.

By the time I walked away from this consciousness-raising clash of perspectives, newly aware of just how fast the future is coming at us, I had another question: Once everyone has the equivalent of a thumb drive with their complete genome on it, can you imagine a kind of online matchmaking service in which you upload your genome to a server, which then picks out a date or a mate for you? The selection is guided by what you say you’re looking for: short-term mutual attraction, an enduring monogamous relationship, robust offspring … Is that now thinkable?

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Autism, Ethics, Genetics, Medicine and Society, Patient Care

Genetic testing, autism, and “fixing” the pathological body

Genetic testing, autism, and "fixing" the pathological body

2678541254_029f25704b_zHow do we know what is pathological, versus what is normal? It seems obvious until you start thinking philosophically, which was the goal of a panel hosted last week by the Science and Justice Working Group at University of California, Santa Cruz. The event was titled “‘Fixing’ the Pathological Body,” a pun on how fixing can mean both repairing and immobilizing.

An anthropologist, a philosopher, and a geneticist discussed how simple, everyday practices like using particular words or certain tests define a line between pathology and normalcy. That line has a huge impact on our experience as humans.

Matthew Wolfmeyer, PhD, professor of anthropology at UCSC, used the term “multibiologism” to indicate that pathology can be seen as a form of human variation. There are three kinds of bodies, he says: those that need no intervention of social, legal, or medical support to enable a livable life, those that do need such intervention (such as a quadriplegic or someone with severe Alzheimer’s), and those that could have such intervention (anyone from hyperactive kids or insomniacs to those with PTSD or arthritis). American society currently divides this spectrum such that the “no intervention” category is becoming empty and the “could have intervention” category is growing by leaps and bounds. Despite what he calls our “cure ideology” from our Judeo-Christian heritage, the pathologies we recognize are increasingly incurable, whether it be gluten sensitivity or chronic cancer, and must be treated with ongoing therapies.

Kelly Ormond, MS, professor of genetics at Stanford, provides genetic counseling and helps people think about these issues every day. She helps expectant parents face the grueling task of deciding what it means to have a baby who might be labeled disabled, pathological, or normal — how would such a child fit into their life, and are they able and willing to accommodate that? Do they even want the information that genetic tests can offer? When counseling parents, Ormond tries to emphasize the lived experience of a condition instead of its medical aspects. Medical information tends to categorize and stir up preconceived notions, but in everyday life the significance of such designations is more fluid, she said.

Janette Dinishak, PhD, professor of philosophy at UCSC, studies autism. She wants to reframe society’s understanding of people with autism such that those without autism are the ones who are limited.

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AHCJ15, Ethics, Events, Patient Care, Pediatrics, Pregnancy

Counseling parents of the earliest-born preemies: A mom and two physicians talk about the challenges

Counseling parents of the earliest-born preemies: A mom and two physicians talk about the challenges

preemie toesWhen Juniper French was born in April 2011, her mom had been pregnant for 23 weeks and 6 days – a little more than half of a typical 40-week pregnancy. Shortly before her birth, doctors had to try to explain the possible consequences of her very early arrival to her parents.

“Prematurity is a very unusual condition because it can affect any corner of the body or the mind to any degree,” Kelley Benham French, Juniper’s mother, told a group of journalists at the Association of Health Care Journalism 2015 conference this past weekend. French and her husband were informed that, even with intense medical intervention at birth, their daughter had an 80 percent chance of death or morbidity. Not only was that staggering, but their doctors couldn’t be very specific about what this number might mean if Juniper did survive: “We asked, ‘Do you mean life on a ventilator or asthma? Do you mean blindness or a wheelchair?'” French recalled. “They said, ‘We don’t know.'”

These same uncertainties are faced by all parents of babies born near the edge of viability, between 22 and 25 weeks of gestation. French, a reporter, eventually wrote an award-winning series about Juniper for the Tampa Bay Times that explains the swirl of emotions and statistics she and her husband, Tom, had to navigate in deciding to ask their doctors to resuscitate Juniper at birth. As French told the conference attendees, the choice was excruciating; they desperately wanted to be parents but didn’t want their baby to suffer. They wondered if “it might be less selfish to just let her die.”

Two Stanford experts joined French in Friday’s presentation to discuss difficult conversations about very early preemies.

Neonatologist Henry Lee, MD, gave a sampling of the information he must present to parents when he has these conversations as part of his work at Lucile Packard Children’s Hospital Stanford: Not only are these babies at risk of dying, they face daunting early-life medical complications. Lee rattled off a list: retinopathy of prematurity; necrotizing enterocolitis; bronchopulmonary dysplasia; intraventricular hemorrhage. Referring to the last item on this list, he said “You can imagine, talking to a parent, telling them that ‘Your baby is at risk for having bleeding into their brain’ can cause a lot of anxiety. And often this is the patient’s first time meeting this doctor or nurse. They don’t have any relationship, but they’re talking about these weighty matters.”

Stanford obstetrician Amen Ness, MD, added that women in preterm labor are often asked to make critical medical decisions quickly. Do they want steroids to mature the baby’s lungs? Are they OK with receiving a classical c-section to deliver the baby, which produces a large vertical scar that increases the risk of placenta accreta in future pregnancies? How much fetal monitoring do they want?

Most of these decisions would feel more comfortable if the patient had a few days to think things over and could return for later conversations with more questions. “You really need that time but you don’t always have it,” Ness said.

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Ebola, Ethics, Global Health, Stanford News

The Ebola crisis: an ethical balancing act

The Ebola crisis: an ethical balancing act

Ebola in GuineaShould Ebola patients in West Africa be given unproven treatments? How should clinicians decide which patients to treat, given the limited availability of some drugs? Should Ebola patients who are dying be given palliative care to relieve pain and suffering?

These are among the ethical questions addressed in a special issue of the American Journal of Bioethics, devoted to the many challenges involved in caring for patients with Ebola.

“Obviously, the Ebola crisis galvanized lots of different health care professionals and academics, but it was very important to the bioethics community,” David Magnus, PhD, director of the Stanford Center for Biomedical Ethics, told me. “From the very beginning, there were the usual public health ethics. But when the time came to give the scarce drug, ZMapp, to a small number of health care workers, there was a huge amount of controversy.”

“That also led to a major debate on the conduct of clinical trials and whether we should give unproven treatments to patients,” he said. “There’s a very big split in the biomedical ethics community.”

Magnus is editor-in-chief of the monthly journal, which is housed at Stanford. He said the special edition of the journal is particularly relevant now, given the recent launch by the NIH of a clinical trial involving ZMapp. The experimental drug, manufactured by a San Diego, Ca. company, was given to a very small number of clinicians in the United States who had been exposed to Ebola in West Africa.

In the journal, a group of ethicists led by New York University’s Arthur Caplan, PhD, argue that the gold standard in drug testing – the randomized, placebo-controlled trial – may not be the most practical and morally defensible approach in an emergency like the Ebola crisis.

A conventional trial is hard to justify, given that patients in the West were given the drug without any placebo controls; West Africans should be treated no differently. Nor can it be justified if the drug is compared against the usual standards of care in Africa, which may be ineffective and carry a high probability of death. That approach could just engender further mistrust in West African communities, they say. Rather, Caplan and his colleagues argue for an alternative approach – a side-by-side comparison of various experimental drugs to see which one is superior in helping rescue patients.

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Big data, Clinical Trials, Ethics, Public Health, Research, Stanford News

The public wants easier ways to participate in medical research, study shows

The public wants easier ways to participate in medical research, study shows

Informed consent, the time-consuming process for obtaining permission to conduct health-care research on a person, was developed long before computers, the Internet and smartphones. Last year, when government regulators proposed to add an even greater burden of paper, red tape and so-called patient protections to this process, a team of bioethicists cried foul. And they took the issue to the public via a cross-sectional survey study that was published today in the Annals of Internal Medicine.

What the survey respondents said surprised them: Keep the permissions simple, but always ask permission, even when the research only involves anonymized medical records.

“The good news was that most people said that they would accept simpler approaches to granting permission, even verbal permissions, if requiring written agreements would hinder this type of comparative-effectiveness research,” study author Mildred Cho, PhD, associate director of the Stanford Center for Biomedical Ethics, said in our press release.

Bioethicists from Stanford and the University of Washington are on the leading edge of addressing the ethical challenges of evolving research methods, where researchers will increasingly use data from wearable devices, electronic medical records, genomic databases and other sources to help improve our population’s health.

In an editorial accompanying Cho’s article, John Lantos, MD, from Children’s Mercy Hospitals and Clinics, summarized the importance of the study:

Cho and colleagues challenge us to think of a better way. Autonomy should mean participatory engagement. Respect for persons should mean empowering them to develop the rules. It is time to ask whether a system in which the fundamental principle is ‘respect for persons,’ can continue to ignore the preferences of many of the persons it claims to respect.

As a next step, the bioethicists will be developing media-rich tools to explain the risks and benefits of research that uses electronic medical records and stored biological samples. For example, the video above was developed to explain the concept of informed consent to survey respondents unfamiliar with research terminology.

Previously: Build it (an easy way to join research studies) and the volunteers will comeHarnessing mobile health technologies to transform human health and Video explains why doctors don’t always know best
Video by Booster Shot Media

Ethics, Genetics, History, In the News, Medicine and Society, Microbiology, Stanford News

Stanford faculty lend voices to call for “genome editing” guidelines

Stanford faculty lend voices to call for "genome editing" guidelines

baby feetStanford law professor Hank Greely, JD, and biochemist Paul Berg, PhD, are two of 20 scientists who have signed a letter in today’s issue of Science Express discussing the need to develop guidelines to regulate genome editing tools like the recently discovered Crispr/Cas9. Researchers are particularly concerned that the technology could be used to alter human embryos. From the commentary:

The simplicity of the CRISPR-Cas9 system enables any researcher with knowledge of molecular biology to modify genomes, making feasible many experiments that were previously difficult or impossible to conduct. […]

We recommend taking immediate steps toward ensuring that the application of genome engineering technology is performed safely and ethically.

We’ve written a bit here before about the Crispr system, which essentially lets researchers swap one section of DNA for another with high specificity. The potential uses, for both research or therapy, are touted as nearly endless. But, as Greely pointed out in an email to me: “Making babies using genomic engineering right now would be reckless – it would be unknowably risky to the lives of those babies, none of whom consented to the procedure. For me, those safety issues are paramount in human germ line modification, but there are also other issues that have sparked social concern. It would be prudent for science to slow down while society as a whole discusses all the issues – safety and beyond.”

The list of others who signed the commentary reads like a veritable who’s who of biology and bioethics. It includes Caltech’s David Baltimore, PhD; U.C. Berkeley’s Michael Botchan, PhD; Harvard’s George Church, PhD; and George Q. Daley, MD, PhD; University of Wisconsin bioethicist R. Alta Charo, JD; and Crispr/Cas9 developer Jennifer Doudna, PhD. (Another group of scientists published a similar letter in Nature last Friday.)

The call to action echos one in the 1970s in response to the discovery of the DNA snipping ability of restriction endonucleases, which launched the era of DNA cloning. Berg, who shared the 1980 Nobel Prize in Chemistry for this discovery, organized a historic meeting at Asilomar in 1975 known as the International Congress on Recombinant DNA Molecules to discuss concerns and establish guidelines for the use of the powerful enzymes.

Berg was prescient in an article in Nature in 2008 discussing the Asilomar meeting:

That said, there is a lesson in Asilomar for all of science: the best way to respond to concerns created by emerging knowledge or early-stage technologies is for scientists from publicly-funded institutions to find common cause with the wider public about the best way to regulate — as early as possible. Once scientists from corporations begin to dominate the research enterprise, it will simply be too late.

Previously: Policing the editor: Stanford scientists devise way to monitor CRISPR effectiveness and The challenge – and opportunity – of regulating new ideas in science and technology
Photo by gabi manashe

Big data, Clinical Trials, Ethics, Public Health, Research, Stanford News, Technology

Build it (an easy way to join research studies) and the volunteers will come

Build it (an easy way to join research studies) and the volunteers will come


Just nine days after the launch of Stanford Medicine’s MyHeart Counts iPhone app, 27,836 people have consented to participate in this research study on cardiovascular health.

“To recruit that many patients into a traditional clinical trial would take years and hundreds of thousands of dollars,” said Michael McConnell, MD, professor of cardiovascular medicine and principal investigator for the MyHeart Counts study.

MyHeart Counts was built with Apple’s new ResearchKit, a software development framework that can be used to create apps that turn an iPhone into a research and data collection tool. Leveraging a smartphone’s built-in accelerometers, gyroscopes, camera and GPS sensors, medical researchers can easily and inexpensively collect streams of data on exercise, diet and biometrics. Unlike most traditional clinical trials, which capture only a snapshot of patient data, ResearchKit studies are able to collect data from thousands of participants simultaneously, over long periods of time.

While the potential for this technology to accelerate medical research is tantalizing, the ethical issues of this shift in researcher-volunteer interactions took Stanford researchers and collaborator Sage Bionetworks nine months to work out.

“One of the big challenges in designing this study was to develop an ethical mechanism for informed consent on mobile devices,” David Magnus, PhD, director of the Stanford Center for Biomedical Ethics, told me. “It was essential that volunteers understand the nature of the research and what it means for them.”

The concept of informed consent is an important tenet of any research institution’s commitment to respect individuals and to “do no harm.” Without face-to-face meeting between a researcher and volunteer, there could be misunderstandings about risks, benefits and time commitments.

Stanford bioethicists are on the leading edge of addressing the communications challenges of these new frontiers in medical research. Rethinking long, text-based consent forms, they are exploring alternatives, such as audio, video, animation and interactivity.

For example, a team of bioethicists from Stanford and the University of Washington recently released animated videos that explain comparative-effectiveness research within medical practices to potential volunteers. Next, they’ll be developing media-rich tools to explain the risks and benefits of research that uses electronic medical records and stored biological samples.

To solicit ideas on how to best regulate this brave new world of informed consent, the U.S. Food and Drug Administration just posted draft guidance on “Use of Electronic Informed Consent in Clinical Investigations.” Public comments will be accepted through May 7, 2015.

To sign up for the MyHeart Counts study, visit the iTunes store.

Previously: Harnessing mobile health technologies to transform human healthMyHeart Counts app debuts with a splashStanford launches iPhone app to study heart health and Video explains why doctors don’t always know best
Photo by iMore

Addiction, Behavioral Science, Ethics, Events, In the News, Media

At Stanford visit, Glenn Beck addresses compassion, change and humility

At Stanford visit, Glenn Beck addresses compassion, change and humility

glennUntil this week, I wouldn’t have associated radio personality Glenn Beck with compassion. And when Jim Doty, MD, director of Stanford Medicine’s  Center for Compassion and Altruism Research and Education invited Beck to the Stanford campus, he realized the right-of-center author and provocateur might be a tough sell to his audience accustomed to guests such as the Dalai Lama and Sri Sri Ravi Shankar.

“Please trust me,” Doty tweeted last week.

Yet fireworks were absent from the nearly two-hour conversation, which ranged from Beck’s struggle with addiction to his Mormon faith and his passion for radio.

Beck came across as human, a man who had endured struggles, made mistakes and is striving to learn from them. He is a father and husband, who organizes charity efforts and volunteers in his church. He said he’s gone from a person for whom the audience size was just a measure of his success to a man who cares deeply about people and his audience members. He prays for humility and said he is not trying to be divisive.

“I spend a lot of time, at the end of my day, saying, ‘Okay, am I that guy? What could I have done better,'” Beck said. “You self-examine all the time and with that self-examination you grow. It’s good. I know who I am because I’m pushed up against the wall all the time.”

Americans share a certain set of principles in common, Beck said. The rift begins when people replace their principles with specific interests and policies.

“For example, if I said to you, ‘Do we torture?’,” Beck said. Nearly everyone would say no. But once threats from terrorists are introduced, the conversation becomes more divided.

“The left and the right have principles in common. We may disagree on interests, but we have to start anchoring ourselves in the principles.”

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Bioengineering, Ethics, Fertility, Genetics, In the News, Parenting, Pregnancy

And baby makes four? KQED Forum guests discuss approval of three-parent IVF in UK

And baby makes four? KQED Forum guests discuss approval of three-parent IVF in UK

newborn feet Scope BlogLast week, the U.K. House of Commons voted to legalize a controversial in vitro fertilization technique called mitochondrial donation, popularly known as the “three-parent baby” technique. The technique is intended for mothers who have an inherited genetic defect in their mitochondria – the fuel compartments that power our cells – and can help them from passing on the incurable disease that often entails years of suffering and ends in premature death.

Doctors replace the DNA from a donor egg with the mother’s DNA, use sperm from the father to fertilize it, then implant it into the mother’s uterus via IVF technology. The donor egg’s cytoplasm contains defect-free mitochondria and DNA from both parents. Proponents say the technique gives parents with mitochondrial disease the chance to have disease-free children, but critics say it brings us one step closer to the reality of genetically modified “designer babies.”

On Friday, Stanford law professor and biotechnology ethicist Hank Greely, JD, was among the guests on KQED’s Forum broadcast to discuss the issue. He’s in favor of the procedure, noting that when looking at genetic modifications, “the purpose, the nature, [and] the safety” should be considered. “There are some things that I think shouldn’t be done,” he said, adding that “things like this, which gives women who have defective mitochondrial DNA their only chance to have genetic children of their own… if the safety proves up… seems to be a good use.”

Previously:  Daddy, mommy and ? Stanford legal expert weighs in about “three parent” embryos and Extraordinary Measures: a film about metabolic disease
Photo by Sean Drelinger

Aging, Ethics, Medicine and Society, Research, Science, Stanford News

Golden years? Researcher explores longevity research and the companies banking on its success

Golden years? Researcher explores longevity research and the companies banking on its success

Elderly Japanese woman for Scott blog postAlthough I haven’t had a birthday yet this year, the transition to writing 2015 on all my checks (whoops, did I just date myself there? ahem) has made me feel older. Coincidentally, I’ve also been working on an article for an upcoming issue of Stanford Medicine magazine about aging and longevity. So, yeah. I’ve been thinking a lot about the passage of time.

That’s why I was really interested to learn that Stanford bioethicist Christopher Scott, PhD, teamed up with Nature Biotechnology senior editor Laura DeFrancesco to c0-author a feature article examining the commercialization of longevity research. The article layers research advances with the rise and fall (and rise again) of companies and organizations that have tossed their hats into the anti-aging ring since the 1990s. With it, Scott and DeFrancesco paint a picture of a dynamic field on the brink of something big. As Scott explained in an email to me:

Aging research, as we knew it in the 1990s and 2000’s, is being abandoned in favor of something much more ambitious. The central features of longevity research include an embrace of big data, a pivot away from studies hoping to find aging genes, a recognition that aging is best thought of a collection of diseases, not just one disease.

I’m fascinated by how quickly this new direction has taken off, especially since classic aging research yielded so little, and became saddled with hype. Longevity research has that same feel to it, and from an ethics and policy perspective one question is whether the promise of healthy lifespans will outrun the reality of the science.

And there’s the rub. As Scott points out, it’s not enough to just live long. No one wants a prolonged, but unhealthy, old age. We need to live long and well. The concept that gained ground is “healthspan” rather than “lifespan.” And from Google’s Calico to Craig Venter’s Human Longevity, Inc , there are a lot of bright minds (and plenty of $) focused on this problem. But there’s a lot at stake.

As Scott explained:

These are highly consequential decisions (funding research, creating new companies, establishing new scientific disciplines), technological inventions, and social changes that are being pursued on the tacit assumption that such decisions, inventions, and changes do lead to a healthier, longer life and the promise of a better future. In ethics, I think these assumptions are largely unexplored and unacknowledged.

The article is a fascinating cross-section of a rapidly growing field, but, as Scott points out, there are still many questions that scientists haven’t addressed. It’s well worth the time to read, whether you’re a writer on a deadline or just a person trying to figure out how to gracefully change that “4” into a “5” on …all your paperwork.

Previously: Exploring the value of longevity with bioethicist Ezekiel Emanuel , Tick tock goes the clock – is aging the biggest illness of all? and Researchers aim to extend how long – and how well – we live
Photo by Maya Stone

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