Implementing genomic medicine in the clinic: the future is here

Nature Genetics in Medicine — Top conclusion of this review conducted by the National Human Genome Research Institute: Multiple institutions are actively engaged in using patients’ genomic information in their clinical care, either as pilot demonstration and research projects or as part of clinical care as a reimbursable service. The Genomic Medicine Colloquium revealed that much of this work is being done in isolation and would benefit from more structured collaboration and sharing of approaches across groups and institutions.

Cancer researchers revisit ‘failed’ clinical trials: US institute launches effort to probe exceptional treatment responses

Nature News — “Some researchers want the NCI to establish a public database of exceptional responders — a necessary step to better leverage the data and move beyond single case studies, says Sawyers. This is particularly important because journals are often hesitant to publish results from a single individual, notes Elaine Mardis, co-director of the Genome Institute at Washington University in St Louis, Missouri. Mardis has advocated for establishing an online journal that would permit quick publication of n-of-1 results, as a way to rapidly release information and give researchers incentive to study patients who seem to be outliers.”

Lessons from the Cancer Genome, by L.A. Garraway and E.S. Lander

Cell — “Finally, there is one critical component that is an essential foundation for the others: widespread information sharing. Cancer genomic information will grow exponentially in the years ahead as genome analysis moves from the research lab to routine clinical care for millions of patients around the world. If it were possible to share and analyze this torrent of genomic information together with associated clinical outcome data, it could significantly accelerate the understanding and treatment of cancer. The information would speed not only the identification of cancer genes, but also the correlation of therapeutic responses to specific tumor genotype, including dramatic responses to new targeted agents seen in some patients and more modest responses to different regimens. In effect, it would connect cancer care around the world into a laboratory for continuous improvement.”

“Making this world a reality will require coordinated efforts by researchers, hospitals, and patient groups to accomplish two goals: (1) creating the computational infrastructure to enable sharing and (2) promoting a culture of sharing.”

Reforming Science: Methodological and Cultural Reforms, by A. Casadevall and F. Fang

Infection and Immunity — “Although the edifice of scientific understanding is sometimes envisaged as an accumulation of individual discoveries, in reality science is a community effort comprising innumerable interdependent contributions. Credit is disproportionately awarded to principal investigators for what is truly the product of teamwork, and nearly all scientific contributions are heavily dependent on knowledge obtained earlier. As Newton famously remarked, he was able to see further by standing on the shoulders of giants. In the spirit of an Amish barn-raising, a celebration of the collective achievement of science should subsume individual achievement.”

“The priority rule means that credit and its associated rewards go to the first individual or group of individuals who announce a discovery irrespective of the number of scientists who have contributed to the solution of the problem…. [and it] probably contributes to many of the current maladies in science. The effort to get there first and grab the largest share of the credit undoubtedly contributes to such practices as citation bias, secrecy, and the appropriation of others’ ideas and data.”

Reputation Systems: A New Vision for Publishing and Peer Review, by P. Frishauf

Journal of Participatory Medicine — The author challenges “the very structure and meaning of a journal “article,” and what we even mean by an “author” and “reviewer.” If the popularity of Wikipedia and thousands of its progeny has taught us anything, it is the benefit of being able to read a single “living” article that is constantly being curated by thousands of people who care about the subject matter.”

Online Reputation Systems: How to Design One That Does What You Need, by C. Dellarocas

MIT Sloan Management Review — “Social web platforms don’t thrive by magic. They can succeed only if they attract the right individuals, motivate them to act in the right ways and empower them to know and trust others in the network. That’s where online reputation systems come in.”

In Search Of an Optimal Peer Review System, by R. Smith

“After 30 years of practicing peer review and 15 years of studying it experimentally, I’m unconvinced of its value. Its downside is much more obvious to me than its upside, and the evidence we have on peer review tends to support that jaundiced view. Yet peer review remains sacred, worshiped by scientists and central to the processes of science — awarding grants, publishing, and dishing out prizes. It would be a bold funding body or journal that abandoned peer review, but could we at least do better?”

“We are at an early stage with these [new peer review] systems, and there is agreement that we should experiment—recognizing that experimentation inevitably means some “failures.” ‘In all science, error precedes the truth, and it is better it should go first than last,’ said Hugh Walpole. It does, however, feel very bold for editors to abandon prepublication of peer review—like walking into the street naked. But if the emperor has no clothes, what’s to be lost? Nothing, but much is to be gained.” [NOTE: Richard Smith MD is the former editor of the British Medical Journal]

Reinventing Discovery: the New Era of Networked Science by Michael Nielsen

Reinventing Discovery

“[Today’s] norms focus on just one way of sharing scientific knowledge: the scientific paper. If we could establish similar norms and a reputation economy that encourages broader sharing of scientific knowledge, then the invisible hand of science would become stronger, and the process of science would be greatly accelerated.”

“As more data is shared online, the traditional relationship between making observations and analyzing data is changing. Historically, observation and analysis have been yoked together… But today it’s becoming more and more common for the most valuable analyses to be done by people outside the original laboratory.”

“It means an ethic of sharing, in which all information of scientific value is put on the network. And it means allowing more creative reuse and modification of existing work.”

Essays by Rapid Science Founder & CEO Sarah Greene

The “Me Decade” of Cancer — Drugs that target specific tumors are harbingers of a new era of genetically informed medicine.
The Scientist Editorial

Opening the Door to Closeted Science
“ (Society of Participatory Medicine)

My Right to Data, Happiness, and a Long Healthy Life
“ (Society of Participatory Medicine)

Participatory Medicine as Revolution! Think Critically! Communicate!
“ (Society of Participatory Medicine)