Round-up Dec 22nd – Feb 18th

Hot topics over the past few weeks have included genetic privacy, blockchain-genetics start-ups, reimbursement. There have also been some surprising new science.

Ethical, Social, Legal
  • A blackhole of accountability” regarding research participants. A privately funded, off shore, unregulated trial of a herpes vaccine has highlighted the lack of protections for research subjects in the US. Federal agencies are underfunded and have shown themselves to be unwilling to engage in even the most egregious cases. Bioethicist Arthur Caplan asks. How is the government going to manage subjects, researchers and investors who don’t like regulations?”
  • A perspective from Laura Hercher on the ghettoization of genetic disease” that non-invasive prenatal screening will mean reduced prevalence of conditions such as Downs, but only in specific communities, as communities have very different cultural attitudes and access to abortion and to disability. We need a genetics community that fights for all vulnerable individuals with as much vigor as it fights for reproductive rights.”
  • An argument for the importance of ethnic diversity in genomic datasets, from the point of view of access to genetic testing in the first place. And a genetic counsellors report that the saying De algo nos vamos a morir” We’re all going to die of something is common from the hispanic population, and is an attitude that affects take up of genetic testing.
  • Pre-marital testing for some genetic diseases has been mandatory in Saudi Arabia for a decade, but it has not deterred all couples, and is only limited to a handful of disorders. There is a renewed push in the country to screen more widely. About 40% of Saudis marry their close relatives, a practice that leaves them very vulnerable to recessive disease.
  • The right-to-try legislation, which passed in the Senate, has stalled in the House. Proponents argue that patients have the right to try any drugs that have been tested in humans. Opponents argue that the bill would undermine patient safety.
  • Whether or not genetic editing counts as genetic modification is heating up as a legal question, for example within the EU over plants.
  • A systematic review of how personalized/precision medicine is presented in the press finds that coverage is overwhelmingly optimistic, thus contributing to science hyping.
  • The World Anti Doping Association discussed making it mandatory for athletes to have whole genome sequencing, in an effort to boost their chances of detecting genetic modification for performance enhancement (“gene doping”)
  • An interesting historical summary of the attitude of African Americans to eugenics in the 20th century argues that there was initially some enthusiasm for the prospect of racial improvement, but that disproportionate targeting of African Americans for eugenic legislation (such as forced sterilizations) changed this tide.
  • A California rep has introduced a Federal bill designed to promote precision medicine, called the Advancing Access to Precision Medicine Act. The Act has been referred to the House Committee on Energy and Commerce.
  • Three of the top five articles of 2017 on Genomeweb concerned regulatory decisions, including FDA guidance around development of companion diagnostics in precision medicine, a Supreme Court decision regarding a decision concerning a forensic DNA kit, and FDA approval for a multi-gene, multi-drug companion diagnostic.
  • Last year CMS announced its coverage position for somatic genetic tests, which is basically to pay for FDA approved assays, which some have argued goes too far and others not far enough. Some commercial payors have indicated that they will likely follow suit.
  • A study of physician knowledge of and attitude to genetics reveals basic barriers, such as lack of knowledge of how to refer to a genetic counsellor.
Concerns around ownership of genetic data, in a world where anybody who gathers data knows that it has value and hence is reluctant to share it.
  • Genetic privacy hit the news again, with Senate Minority Leader Chuck Schumer called on the Federal Trade Commission to launch an investigation into the way DTC genetic testing companies handle customer data. He doesn’t think that companies should be able to sell individuals’ genetic data without their knowledge. The data can be subpoenaed in court, stolen, bundled and sold.
  • The first case of theft of the genetic information in DNA is in progress. It differs from previous cases in its focus on information rather than sample, and privacy rather than economic gain. So far, legal precedent is that you don’t own your DNA which runs counter to the belief that many people have.
  • A commentary that outlines the tension between HIPAA’s requirement that individuals have access to their own data with FDA and CMS, who often regulate to limit access on the basis of safety concerns.
  • The UK Personal Genomics Project are putting together an open consent”, based on the idea that whoever has had their genome sequenced is the final owner of the data
Products and Projects
  • Launch of Pheramor, a Dating App that incorporates DNA analysis of pheromone variability to help suggest potential dates. Based on science such as the sweaty T-shirt study, showing that we tend to be attracted to people with different HLA types than us, it is almost certainly an example of a little science being used to attempt something in a lucrative market.
  • 23andMe have launched a weight loss study, designed to be both interventional and remote, timed for the New Year. They hope to involve 100,000 people. I signed up, and have been disappointed that all I have received from them with some minimal information about what foods to try and eat less of. They hope to gather data that will allow them to make tailored weight loss plans for their customers, and also to prove a model for running trials that could prove lucrative.
  • A new kid on the block for consumer genomics, Pillar Health, has launched. they aim to differentiate themselves by being longitudinal, and through focusing on environmental causes of health differences.
  • Start-up Prescient has developed a test that it claims helps identify, on the basis of a gene panel test, those most likely to become addicted to opiods, and who hence should be offered alternative pain medication.
  • Lynparza, a PARP inhibitor has been approved for use in women with metastatic breast cancer who have a BRCA mutation. An FDA spokesperson: This approval demonstrates the current paradigm of developing drugs that target the underlying genetic causes of a cancer, often across cancer types. 
  • Couples can have carrier screening to determine what recessive diseases a child of theirs has a chance of having. HumanCode, for $259, uses the same techniques to look at the sunnier side of what a future child might look like, for example, whether they are likely to have a sweet tooth. Queue worries about labelling children, in this case before they are even conceived.
  • The Earth BioGenome Project and the Earth Bank of Codes have announced a partnership as part of the mission to sequence all 1.5 million vertebrate species and make their genomes available to those developing solutions to preserve biodiversity and promote sustainability.
  • Towards the holy grail in cancer diagnostics an early detection test. A multi-institution effort called CancerSEEK based on cell-free DNA reports ~70% sensitivity and ~99% specificity.
  • The anticipated delivery date of 500,000 whole exomes by the UK BioBank initiative is 2020.
  • Invitae plans now offers its ~130 proactive cancer and cardiovascular screen” gene panel test for healthy individuals for $250. Based on their pilot data, ~15% of individuals received positive results.
  • An update from ClinVar, the public repo of variant classifications, most from clinical labs: there are now classifications on ~376,000 variants, covered by 582,000 submissions from ~900 submitters. Medically relevant discordance of classification is ~2%.
Block chain based companies, that will store your DNA and allow you to sell it to pharma companies: