(Wired) – For a decade we’ve been talking about the potential of gene sequencing and personalized medicine, how advances in computer processing power combined with an increasingly intimate understanding of our individual genomes has put us on the threshold of an age of miracles. With enough data, the theory goes, there’s not a disease that isn’t druggable. But as Schadt has learned, it’s not enough to plumb the depths of an individual’s DNA. It requires a universe of data—exabytes worth—to detect patterns in a population, apply machine learning, find the network of mutations responsible for disease, and do something about it. The bigger these data sets become, the more accurate and powerful the models and the predictors become.
(Kaiser Health News) – The health law prohibits insurers from discriminating against people with serious illnesses, but some marketplace plans sidestep that taboo by making the drugs that people with HIV need unavailable or unaffordable, complaints filed recently with the Department of Health and Human Services’ Office for Civil Rights allege. The effect may be to discourage people with HIV from buying a particular plan or getting the treatment they need, according to the complaint.
(UPI) – An international research team says they have identified the physical source of depression in the brain in a new study. Investigators traced depression, one of the most common mental ailments in the world, to the lateral orbitofrontal cortex, the part of the brain responsible for a non-reward mechanism. According to the research team, this is likely the reason people living with depression often feel a sense of loss, disappointment and low self-esteem.
(Medical Xpress) – For patients with chronic back pain, “open” treatment with placebo—informing patients that they are taking an inactive pill, and why it might be helpful—leads to reductions in pain and disability, reports a study in Pain, the official publication of the International Association for the Study of Pain (IASP). “This study is the first to demonstrate potential clinically significant benefits of open placebo treatment in chronic low back pain,” according to the new research by Claudia Carvalho, PhD, of ISPA-Instituto Universitário, Lisbon, and colleagues. “Our data suggests that harnessing placebo effects without deception is possible in the context of a plausible rationale.”
(The Atlantic) – This new environment presents a complex mix of opportunities and challenges for health officials. On one hand, increased public engagement during a health crisis can allow officials to communicate more directly with citizens. But every new online platform is also a conduit for spreading criticism or misinformation. The rise of social media makes it “harder for governments to shut down the flow of information, but the information itself may be unreliable,” says Crawford Kilian, a Vancouver-based writer who covers the politics of public health.
(Reuters) – China has zero tolerance for non-voluntary organ transplants and is fighting corruption in its fledgling donor system, an official who has led reform said on Monday, as Beijing seeks to leave behind an era of controversial organ harvesting. Last year, China officially ended systematic use of organs from executed prisoners in transplant procedures, a practice long condemned by international human rights groups and medical ethicists.
(The Scientist) – For the first time, scientists generate functional mouse eggs from stem cells in culture. Scientists have for this first time reprogrammed murine embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) into fully functional oocytes in the laboratory. The paper describing the technique, published today (October 17) in Nature, provides a blueprint to study theprocess of oogenesis, and paves the way to attempt a similar technique using human ESCs and iPSCs.
(Newsweek) – VF babies born to mothers over 40 are half as likely to have birth defects than those conceived naturally to women of a similar age, research has revealed. A study suggests older women trying to conceive could biologically benefit from fertility treatment, decreasing the chances of their child being born with disabilities. Experts have called the results—which were even better than those for IVF-treated women in their 20s—“remarkable.”
(The New York Times) – On clinic websites, he said, “There’s a lot of massaging of the data, often combining data from several years to make the results look better. And clinical pregnancy rates do not necessarily reflect live birthrates. Live births are what really matter.”
(MIT Technology Review) – Dupree, who majored in biochemistry and hopes to become a genetic counselor, has sometimes imagined what life would be like if that small error were not there. A year ago, in December, he learned how a technology called CRISPR might make that possible. A scientist named Eric Olson had requested some of Dupree’s blood a few months earlier, and Dupree had agreed. Soon he was rolling through the lab on his TiLite wheelchair so Olson, a biologist at the University of Texas Southwestern Medical Center, could show him the results—and what some scientists now predict is the likeliest way to cure Duchenne.
(The Wall Street Journal) – The latest front in the battle over doctor-assisted suicide is unfolding in Colorado, where voters will consider a ballot measure next month that would permit physicians to aid terminally ill patients in dying. Proposition 106 would allow adults who have six months or less to live, and are mentally competent, to take medication prescribed by a doctor to end their lives. If it passes, Colorado would be the fifth state to have a law that allows the practice, according to the National Conference of State Legislatures.
(Medscape) – A study of elderly patients’ end-of-life forms found that 69% had at least one section left blank, and 14% indicated the patient wanted comfort measures only, but also that they wanted be sent to the hospital, receive intravenous fluids, and/or receive antibiotics. These inconsistencies would likely result in patients receiving unwanted emergency care. “Patients and proxies may believe that making choices and documenting some, but not all, of their wishes on the [Medical Orders for Life-Sustaining Treatment (MOLST)] form is sufficient for directing their end of life care,” the authors write.
(STAT News) – Recognizing the prevalence of the problem, doctors and nurses across the country are now pushing an ambitious campaign to change practices in intensive care units to reduce cases of “ICU delirium” — a sudden and intense confusion that can include hallucinations, delusions, and paranoia. Anywhere from a third to more than 80 percent of ICU patients suffer from delirium during their hospital stay. And one-quarter of all ICU patients suffer from post-traumatic stress disorder once they leave, a rate that’s comparable to PTSD diagnoses among combat veterans and rape victims. Patients with ICU delirium are less likely to survive and more likely to suffer long-term cognitive damage if they do.
(Bloomberg) – Drugmakers are jumping in to offer innovative treatments like gels and gene therapy to prevent or even reverse tinnitus and hearing loss — which affect 25 million and 48 million people in the U.S., respectively. Undeterred by recent setbacks in clinical trials, some pharmaceutical companies see hearing-loss drugs turning into a multi-billion dollar market, bolstered by the stigma associated with wearing hearing aids and exposure to loud music through headphones in younger generations.
(Los Angeles Times) – Relatively little attention was paid last year when President Obama called for creation of a database containing the DNA of a million volunteers as part of moves toward “precision medicine,” or tailoring healthcare to people’s individual needs. But to many in the healthcare field, Obama’s embrace of a national repository of genetic information was seen as a turning point in advancing use of “big data” to reduce medical costs and improve people’s well-being by anticipating disorders before they become serious problems.
(New York Times) – In the Netherlands, a country vaunted for its liberalism, a proposal to legalize assisted suicide for older people who are generally healthy but feel they have led a full life has stirred up an ethical storm in some quarters. In 2001, the Netherlands became the first country in the world to legalize euthanasia for patients who were suffering unbearable pain and had no prospects of a cure. Now, some critics say the country has gone too far with a proposed law that would allow people who are not suffering from a medical condition to seek assisted suicide if they feel they have “completed life.”
(Nature) – AI will not necessarily be worse than human-operated systems at making predictions and guiding decisions. On the contrary, engineers are optimistic that AI can help to detect and reduce human bias and prejudice. But studies indicate that in some current contexts, the downsides of AI systems disproportionately affect groups that are already disadvantaged by factors such as race, gender and socio-economic background.
Journal of Applied Research in Intellectual Disabilities (vol. 29, no. 6, 2016) is available online by subscription only.
- “Medical Students’ Attitudes Towards Health Care for People with Intellectual Disabilities: A Qualitative Study” by Travis A. Ryan and Katrina Scior
Journal of Genetic Counseling (vol. 25, no. 5, 2016) is available online by subscription only.
- “The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting” by Jessica R. Balcom, Katrina E. Kotzer, Lindsey A. Waltman, Jennifer L. Kemppainen and Brittany C. Thomas
- “Spiritual Exploration in the Prenatal Genetic Counseling Session” by Katelynn G. Sagaser, S. Shahrukh Hashmi, Rebecca D. Carter, Jennifer Lemons, Hector Mendez-Figueroa, Salma Nassef, Brent Peery and Claire N. Singletary
- “‘Be Prepared if I Bring It Up:’ Patients’ Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling” by Amanda Bartenbaker Thompson, Deborah Cragun, J. E. Sumerau, Ryan T. Cragun, Vanessa De Gifis and Angela Trepanier
- “Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections” by Erin Floyd, Megan A. Allyse and Marsha Michie
- “The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice” by Emily Suskin, Laura Hercher, Kathleen Erskine Aaron and Komal Bajaj
- “Should I Perform Genetic Testing? A Qualitative Look into the Decision Making Considerations of Religious Israeli Undergraduate Students” by Merav Siani & Orit Ben-Zvi Assaraf
(BBC) – This is the new reality of Yemen’s health system, or what is left of it. After two years of war, thousands of people are dying from easily treatable conditions as the system collapses around them. Drugs are disappearing from the market or skyrocketing in price. Mental health care is virtually non-existent. Vital hospital equipment is stuck at ports while medical convoys, ambulances, and entire hospitals are destroyed from the sky.