The Top Science Progress Features of 2009

In 2009, we saw a renewed engagement with ethical questions about how we regulate biotechnology, watched the conservative war on science continue on new fronts, and witnessed renewed commitments to grow U.S. prosperity with investments in science and technology.

Timeline: A Brief History of Stem Cell Research

One of our most popular features ever, this interactive timeline marked key moments, beginning the in the 1970s, from the interrelated stories of human embryonic stem cell research and the policy governing that work. The piece collects research featured in the Center for American Progress report, “A Life Sciences Crucible: Stem Cell Research and Innovation Done Responsibly and Ethically.” The Obama administration’s final stem cell policy closely resembledthe one recommended in the paper.

Dude, Where’s My War on Science?

By Chris Mooney

Conservatives tried to expose what they claim was a case of science suppression by the Obama administration—and in the process demonstrated how little they know about science in the first place. The attack on EPA’s policy process, Mooney explained, fails peer review.

The George Will Scandal

By Chris Mooney

When The Washington Post ran a column by Will rife with errors on climate science, Mooney asked: If a major media outlet can’t even correct facts about global warming, is it still socially relevant?

What Does This Generation Think it Means to be a “Scientist”?

By Chris Mooney

Many students don’t see a life of academic specialization as the best way to employ their scientific talents. They want to do something more to bring science to the rest of America. Changing definitions could entail a changing relationship between science and society, wrote Mooney.

How the Global Warming Story Changed—Disastrously

By Chris Mooney

Skeptics didn’t need good science to make another attack on climate change research. Their strength has always been in communication tactics anyway, and not scientific exactitude or rigor, wrote Mooney, examining the fallout from the “ClimateGate” scandal. And the U.S. public, never overwhelmingly sure about climate change, has long been susceptible to their smokescreens and misinformation campaigns.

Throwing the Baby Out With the Amniotic Fluid

By Michelle N. Meyer

One important distinction that is not made often or clearly enough by either ethicists or lawyers is that between decisions to procreate and decisions not to procreate. Witness, for instance, the reaction to Nadya OctoMom™ Suleman.

Hold Off On Holdren (Again)

By Chris Mooney

Conservatives found another ludicrous charge to hurl against the president’s science adviser. It was just the latest attempt to distract from actual science policy.

Autonomous Contraception

By Lisa Campo-Engelstein

A recent discovery, wrote Campo-Engelstein, might open the door to an effective male contraceptive drug, a technology that could have been developed decades ago, were it not for social factors that enable women but not men to effectively regulate their fertility outside of sexual activity and without their partner’s participation or knowledge.

Regional Centers of Innovation 101

Regional centers such as Silicon Valley and Boston cultivate technology-based economic development through a dynamic mix of researchers, entrepreneurs, investors, and infrastructure. Drawing lessons from their success can help revitalize the U.S. economy. This feature marked the beginning of our ongoing project developing policies that support innovation clusters around the country.

(Source: Science Progress)

Paving the Way for Personalized Medicine

On Thursday, the Secretary’s Advisory Committee for Genetics, Health, and Society at the Department of Health and Human Services will meet to discuss a set of reports on the future of genomic medicine. The meeting will cover a range of important issues such as the impact of affordable whole-genome sequencing; comparative effectiveness research; genetics education for healthcare providers, patients, and public health workers; and the sharing of genomic data across multiple sectors including research, industry, and healthcare services.

SACGHS has formed a task force to address the clinical utility of genetic testing—that is,.the usefulness of genetic tests for helping doctors choose more effective interventions for their patients. Assessing clinical utility is an important component of both personalized medicine and comparative effectiveness research, which analyzes interventions head-to-head to see which work better for different patients. The goal is to improve comparative effectiveness research by incorporating genetic tests, which would allow physicians to tailor treatments to individual patients based on their own DNA.

The Personalized Medicine Coalition held a conference last fall to promote the alignment of comparative effectiveness research with personalized medicine. This alignment is also a crucial aspect of the recommendations issued by the Institute of Medicine, which promoted research on both “diseases and conditions with the greatest aggregate effect on the health of the U.S. population, but also less common conditions that severely affect individuals invulnerable subgroups of the population.”

The Center for American Progress has also recognized the importance of ensuring that CER can “accelerate the discovery of approaches to individualized medicine and help providers cater to the specific needs of patients.” This will move medicine beyond the “one size fits all” therapies that result from the research provided by pharmaceutical companies to the FDA. SACGHS is taking an important step forward by identifying ways to assess the clinical utility of genetic tests. This was one of several recommendations CAP has made not just for advancing personalized medicine but also for improving the quality of genetic testing in the report, “Genetic Information Non-Discrimination.”

Genetics education and training will also be a major part of the SACGHS meeting agenda. The task force outlined its action plan in July of 2008 and has since set out to identify the needs of healthcare providers, the public health workforce, and the general public for genetic education. The task force also identified various types of case studies that it will use to analyze the current information gaps in genetic testing. This will require exploring the best way to gather and disseminate information about pharmacogenomic testing, newborn screening, diagnosis of single gene disorders, direct-to-consumer testing, and population genetics. The task force plans to release their report in the coming months. This is an important step, as the public must be “informed and educated about personalized medicine through outreach efforts, opportunities for public comment or input, and most importantly through transparency.”

Data sharing is also a major component of the agenda. Representatives from government, academia, health care systems, industry, and consumer groups will present different models for sharing genomic information. This will be followed by a discussion of health information technologies that aim to efficiently connect the data among these multiple sectors. In “Paving the Way for Personalized Medicine,” my co-author and I addressed both the positive developments as well as the missed opportunities on this front. In particular, we noted that HHS’s Health IT Standards Committee has not properly collaborated with outside networks that are working to devise consistent nomenclature so that genomic data can be utilized through health IT. We recommended this kind of collaboration so that HHS can leverage the expert resources available for combining cutting-edge genomic science with health IT.

The face of medicine is changing at a breakneck pace and a forum like the SACGHS meeting allows scientists, policymakers, innovators, service providers, and patients to work together to ensure that this new era of medical innovation serves the common good by being safe, effective, efficient, and equitable.

A gene test that predicts the risk of a stroke

Adults at risk of either prostate cancer or an erratic heart beat that can lead to strokes can now be identified early by genetic testing. About one in 20 elderly people suffer from atrial fibrillation, a condition in which turbulent blood flow raises the risk of blood clots, which can then lodge in the brain and cause a stroke.

Now an Icelandic company, deCODE, has announced in the journal Nature that it has found a variation in the human DNA sequence which raises the risk of atrial fibrillation, and used it as the basis of a test which will make it possible to identify those who will benefit the most from treatment. The firm's researchers found two "spelling mistakes" or single-letter variations in the human genetic code which increase the risk of atrial fibrillation by about 70 per cent and 40 per cent, doubling that risk if two copies of the variants are carried.

Because of the link with stroke, the company believes testing for these variants will provide doctors with a cost-effective means of identifying those who should be intensively monitored and reduce their risk by taking anticoagulant drugs. Passing abnormalities in heart rhythm are difficult to detect in many patients and it is impractical and too costly to conduct extended cardiac monitoring, even in patients who have had a stroke. The "spelling mistakes" in DNA linked with the risk were found through analysis of more than more than 300,000 common single-letter DNA changes in more than 5,000 Icelanders and were replicated in a further worldwide study of 18,000 subjects.

Association between Type 2 Diabetes Loci and Measures of Fatness

Type 2 diabetes (T2D) is a metabolic disorder characterized by disturbances of carbohydrate, fat and protein metabolism and insulin resistance.

The majority of T2D patients are obese and obesity by itself may be a cause of insulin resistance. Our aim was to evaluate whether the recently identified T2D risk alleles are associated with human measures of fatness as characterized with Dual Energy X-ray Absorptiometry (DEXA).

Nine single nucleotide polymorphisms (SNPs) in the CDKN2AB, CDKAL1, FTO, HHEX, IGF2BP2,KCNJ11, PPARG, SLC30A8 and TCF7L2 genes were genotyped.

Linear regression was used to study association between individual SNPs and the combined allelic risk score with body mass index (BMI), fat mass index (FMI), fat percentage (FAT), waist circumference (WC) and waist to hip ratio (WHR).

Significant association was observed between rs8050136 (FTO) and BMI (p = 0.003), FMI (p = 0.007) and WC (p = 0.03); fat percentage was borderline significant (p = 0.053). No other SNPs alone or combined in a risk score demonstrated significant association to the measures of fatness.

From the recently identified T2D risk variants only the risk variant of theFTO gene (rs8050136) showed statistically significant association with BMI, FMI, and WC.

Investigation of TNFA 308G > A and TNFB 252G > A polymorphisms in genetic susceptibility to migraine.

J Neurol. 2009 Dec 25; Ghosh J, Joshi G, Pradhan S, Mittal B look for the association of tumor necrosis factor (TNF) gene polymorphisms (TNFA 308G > A, and TNFB 252G > A) in genetic susceptibility to migraine. The pathogenesis of migraine involves many immune-mediated mechanisms in the vascular endothelium. TNF, being a potent immunomodulator and pro-inflammatory cytokine, is suggested to be involved in inflammatory reactions leading to migraine attacks. A total of 216 normotensive migraine patients, 160 tension type headache (TTH) patients and 216 healthy controls (HC) were recruited in the study. The genetic polymorphisms were investigated through SNP association analysis using a matched case control migraine population. Genotyping of TNFA 308G > A polymorphism and TNFB 252G > A was done using ARMS PCR and PCR-RFLP, respectively. A borderline association was observed in TNFA 308GA genotype in migraine patients versus HC (p = 0.043; OR = 1.763; 95% CI = 1.019-3.051). After sub-grouping migraine into migraine with aura (MA) or without aura, significant difference at genotypic (p = 0.015; OR = 2.293; 95% CI = 1.172-4.487) as well as allelic (p = 0.035; OR = 1.955; 95% CI = 1.047-3.651) level was evident. The difference was even more significant in female MA at genotypic (p = 0.006; OR = 2.901; 95% CI = 1.361-6.181) and allelic level (p = 0.017; OR = 2.318; 95% CI = 1.159-4.635) as well as for A allele carriers in MA [p value = 0.020; OR = 2.205 (1.132-4.295)] and female MA (p value = 0.008; OR = 2.741; CI = 1.297-5.792). No association of TNFB252G > A was observed in migraine patients or any subgroups. We did not find any association of TNFA or TNFB gene polymorphisms with TTH. In conclusion, the TNFA 308G > A polymorphism was found to be associated with MA, particularly in females, whereas we could not find any association of TNFB 252G > A polymorphism in genetic susceptibility to migraine on comparing the migraine patients with HC or TTH patients.