Tag: personal genomics

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Hacking CRISPR: Patents, Gene Therapy & Embryos

Bruiseless bananas, vegan cats, pig-to-human transplants, and super-muscular dogs: can you tell the real CRISPR projects from fake ones? It’s getting harder these days, as the latest generation of “gene editing” tools are not only (relatively) quicker, cheaper, and easier than any previous genetic engineering method, but have become “probably the fastest-spreading technology in the history of biology.” As it spreads, researchers the world over are discovering new hacks, complexities, and limitations for CRISPR. Here’s a round-up of recent developments in this booming arena.  

Trending globally: gene editing experiments with human embryos

On April 8, news broke that the second paper documenting CRISPR experiments in human embryos had been published. Researchers at Guangzhou Medical University sought to enhance nonviable embryos leftover from IVF with a naturally occurring mutation that confers HIV resistance: CCR5Δ32.


(Image via Wikimedia: Guangzhou Circle)

The experiments were largely unsuccessful: only 4 of 26 embryos wound up with a copy of the desired mutation, and none had the two copies that would be needed to resist the virus. Mosaicism was also a problem. A year prior in April 2015, the first research using CRISPR in tripronuclear human zygotes was reported by a team at Sun Yat-sen University in the obscure journal Protein & Cell, after Nature and Science turned it down. This second paper was reported in “an obscure reproductive journal” published by the American Society of Reproductive Medicine (the same body that releases non-enforceable guidelines into the void of any regulation over assisted reproductive technologies in the United States).

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Scientists Make Mice Glum

Lab mice are probably not the happiest of creatures. Food is not much of a problem (unless they are in one of those starvation-diet experiments) but roaming is discouraged, the environment is not that cozy and I imagine they don’t get given the wifi password. Even so, most of them don’t have to put up with researchers deliberately making them depressed.

All in a good cause, naturally, from the human point of view. Researchers, mostly at UCSF, identified a variant form of the PER3 gene in humans, which is involved with the circadian clock. The variant also seems to be linked to a tendency to sleep and wake very early (Familial Advanced Sleep Phase, or FASP) — and also with seasonal affective disorder (SAD). SAD is a relatively common kind of depression related somehow to changes in the length of the day, especially in the fall.

There is a long, long way to go before anyone can even think about using this linkage in therapeutic approaches, but it could be an important clue as to how sleep and mood disorders may be linked.

Bring on the mice. The scientists made transgenic mice with the human gene variant. And controlled the lighting to match the changing seasons. Bingo:

The model mice slept and behaved normally when their days and nights were of equal length, but developed depression-like symptoms as nights became longer than days.

You can’t do talk therapy with mice, but basically when they are feeling under the weather they don’t wriggle as much and they give up quick when something disturbing happens, like someone with a white coat picking them up.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Biopolitical News of 2015

For controversy and consequence, no story in 2015 came close to the rapidly developing CRISPR-Cas9 “gene editing” tools, and the prospect of their use to modify the human germline. The 2015 wave of news about gene editing swelled to pervade many of our concerns, from inheritable genetic modification to assisted reproduction, from disability and racial justice to synthetic biology, from the legacy of eugenics to the general culture of biotech.

Of course, CRISPR wasn’t the only news of the year. The UK approved a form of inheritable genetic modification based on nuclear genome transfer techniques, based in part on a public consultation process that was represented as demonstrating broad support, but that actually did not. Biobanks and DNA databases grew ever larger, raising both hopes and concerns. Research on all kinds of stem cells continued, with a combination of advances, scandals, and major financial concerns. Products made using synthetic biology techniques began reaching the market. Cross-border surrogacy dominated the news about assisted reproduction.

The Center for Genetics and Society continues to work to raise public awareness, inform policy debates, and include a wide range of public interest perspectives in the regulatory and governance decisions that shape the way human assisted reproduction and biotechnologies develop. Here is a breakdown of highlights roughly grouped by topic:

INHERITABLE GENETIC MODIFICATION

In 2015, CGS’s core organizational concern about human heritable genetic modification moved from the realm of scientific fiction to a thinkable clinical prospect.

In February, the UK Parliament carved out an exception to its law prohibiting human germline modification, allowing the HFEA to begin licensing clinics to create children via “3-person IVF,” also known as mitochondrial manipulation or nuclear genome transfer.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Top Biopolitical Times Posts of 2015

In 2015, CGS staffers and guest contributors posted 80 blogs at Biopolitical Times. Some were syndicated on our guest blog at Psychology Today, Genetic Crossroads.

Fourteen of our favorite posts plus a series by CGS staffers are shown below in chronological order. Scroll down for posts by our wonderful guest contributors.

Staffers

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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F.D.A. Attention to Inaccurate Lab Tests Defers Hopes of

Generally the stock of research hospitals, laboratory developed tests (LDTs) were traditionally considered relatively benign and straightforward, tending not to require premarket review in the U.S. by the F.D.A. However, with the advent of genetic testing and private biotech company research, LDTs are now being used to diagnose common and serious diseases such as heart disease and cancer—highlighting the need for regulatory oversight to manage the diagnostic consequences of unvalidated testing. Over the last year, the F.D.A has been working towards new guidance of LDTs while seeking comments from the public. On November 16, the administration released a report of 20 case studies depicting the negative public health impact caused by LDTs that don’t perform as promised.

Robert Pear covered the issue for The New York Times, remarking that “Inaccurate and unreliable medical tests are prompting abortions, promoting unnecessary surgeries, putting tens of thousands of people on unneeded drugs and raising medical costs.” These are non-trivial findings. Beyond the personal harm caused by these mistakes, the costs are impressive. For example, an inaccurate genetic biomarker test for autism that was given to 2,027 children had an estimated social cost of $66.1 million, far outweighing the profits provided to the company.

In addition to these immediate individual and social harms, there is also a looming existential threat to the healthcare and research communities. These tests are in the limelight largely because they form the backbone of “precision medicine,” an effort to which the current Administration is now committed. The promise of precision medicine rests in knowledge: if we can test and sequence and analyze, then we will know; and if we know, then we may be able to conquer.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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New Rules Proposed to Address Privacy and Trust in the Precision Medicine Initiative

With the launch of the US Precision Medicine Initiative (PMI), patient autonomy within the practice of informed consent is being revisited. The PMI is designed to amass the data of a million volunteers in an effort to advance research and support public health. Alongside this national effort, proposed revisions to the “Common Rule” that regulates research with human subjects in the US are open for public comment through December 7, and are summarized in a Perspective published in the New England Journal of Medicine on October 28, 2015 by NIH director Francis Collins and NIH senior advisor Kathy Hudson.  

In general, the process known as “informed consent” is designed to give research participants the autonomy to consider the risks and benefits associated with a research study as part of their decision making about whether to agree or refuse to participate. Early on in biomedical and genomics research, the risks and benefits presented as part of the process were confined to health side effects and therapeutic outcomes. More recently, with the advent of advances in biotechnology, supercomputing, and the construction of large-scale data sets, risk and benefit have taken on new meaning.

In a country that is struggling to address national healthcare within the context of racial and economic inequities, analyses of risk and benefit must expand beyond traditional definitions. This is especially true as biomedical research has become increasingly dependent on human bodies, cells, tissues, and DNA. Today, healthy volunteers in clinical trials can gain financial benefit in the form of payment or compensation; contributors of genetic information must consider privacy and discrimination risk associated with release of genetic information; and patients must be aware of profits made from research on biospecimens collected as part of diagnosis or therapy.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Gene Therapy: Comeback? Cost-Prohibitive?

The Center for Genetics and Society and many others have long argued that it’s important to draw a sharp policy line between heritable genetic modification and genetic alterations aimed at treating an existing patient – gene therapy. That does not, however, mean that gene therapy is problem-free. With the CRISPR boom of the last three years, a number of biotech companies have been planning human clinical trials for a range of gene therapy applications, which raise important questions of their own.

At a recent UC Irvine conference on The Challenge of Informed Consent in Times of Controversy, Columbia University law professor and Nation columnist Patricia Williams described the hype now surrounding CRISPR “gene editing” developments, whether applied to heritable or non-heritable genetic changes:

What’s happening now is also a rat race, to beat out others in the charge to the patent office; a lunge to own all parts of the genome, to close down the public commons in the bioterritory of the genome.  Hence, much of this has a temporal urgency to its framing that exploits our anxiety about mortality itself. Hurry up or you’ll die of a really ugly disease. And do it so that ‘we’ win the race, for everything is a race, a race against time, a race to file patents, a race to market, to better babies … there is never enough glory or gain, there is always the moving goalpost. And this is a cause for worry in the framing of a broad spectrum of technologies.

Amid the excitement about the new generation of genetic engineering tools and protocols that Williams evokes, and the fast-paced reporting on research developments and scientists’ speculations, important distinctions are too often being muddied and serious concerns are too often overlooked.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Genetic Surveillance: Consumer Genomics and DNA Forensics

“If we each keep our genetic information secret, then we’re all going to die.”

So says Bill Maris, founder, President and CEO of Google Ventures, that $2B investment firm with stakes in more than 280 startups, looking to spend $425M on anti-aging and life extension this year.

Maris isn’t simply trying (successfully) to make headlines, he’s looking to drive a consumer genomics market by convincing people to hand over their genetic material for research. He isn’t alone on this front. 23andMe and Ancestry.com have also engaged in grand, seductive promises: Learn your carrier status! Meet your long-lost relatives! Learn how “African” your DNA is, based on “ancestry informative markers!”

This kind of hype downplays the limits and obstacles to providing reliable genetic information and using it to generate beneficial health impacts. It completely obscures the extent to which research as a system—corporate, academic, governmental, what have you—has been co-opted by private gains and has proceeded with little-to-no accountability to the public good and health. And it elides the real drivers of the genomics business model: mass data collection and brokering data access.

Much of the recent reporting on consumer genomics has focused on the FDA’s battle with 23andMe about selling clinically unreliable health information, and on business developments in the sector. Earlier this month, we learned that Ancestry.com is in talks with FDA to start selling health information. Last week, the big news was that 23andMe has been cleared by the FDA to begin selling carrier screening tests for 36 genetic variants.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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Big Money Heading for Consumer Genomics

The direct-to-consumer (DTC) genetic testing business hit a major speed bump when the Food and Drug Administration (FDA) stopped 23andMe in its tracks two years ago. The FDA asserted control over the sale of DTC tests, saying that it required proof of their analytical or clinical validity.

At the time, this was controversial, with libertarians particularly up in arms about “bureaucrats” and “ridiculous bans.” Others pointed out that the FDA was doing its job. Matthew Herper in Forbes (or his editor) came up with the headline:

23andStupid: Is 23andMe Self-Destructing?

We now have a definitive answer: No. From the same author, same publication, already online, and in print on November 2:

23andMe Wins A Second Life: New Business Plan Scores $115 Million From Investors

The latest investment, from several venture capital outfits, values the company at $1.1 billion.

A company spokesperson told The Verge that they “will return health reports to consumers by the end of this year.” Back in February, the FDA did give the company clearance to sell a test for one specific gene correlated to a rare genetic disease, and CEO Anne Wojcicki is spinning that hard:

Now Wojcicki says she hopes the FDA will allow 23andMe to market some health-related tests again soon. “There’s a huge value in actually being the only one who’s gone through the FDA process and can sell directly to consumers,” she says. Some of them, she hints, may have higher margins than the $99 test.

23andMe has for a long time had the concept of leasing the content of their database for research as an important part of their business plan, and announced a deal with Genentech back in January.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

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“Moonshot Medicine”: Putative Precision vs. Messy Genomes

Like so many medical terms, “precision medicine” is a combination of both wishful thinking and obfuscation.  In this case, it also carries a somewhat unsettling suggestion: if medicine has not up until now been precise, then what has it been? 

Precision medicine started being touted in the specialized journals in the late aughts as part of a “new era” being ushered in by coordinated and integrated care, fiscal transparency, and patient-centered practice.  It was one of a suite of approaches that promised to bring costs down while improving outcomes.   The idea was that by looking at drugs and other therapies according to how they succeeded (or didn’t) in people sharing particular gene variations and similar physical traits, physicians could make more intelligent choices patient-by-patient, selecting the treatment with a greater chance of working. 

Big Pharma saw promise in the approach and made strategic partnerships (Pfizer and Medco Health Solutions in 2011, for example, and Novartis and Genoptix that same year); startups and researchers rushed to secure patents; while medical groups such as the American Society of Clinical Oncology devoted sessions at their annual conferences to precision medicine’s potential benefits now that speedier gene sequencing was bringing costs down sufficiently to make it possible to contemplate tailor-making cancer drugs.

At the same time, some in the burgeoning field saw major structural hurdles.  For example, most work on biomarkers—the substances or physical signs that a disease is present or a drug is working—is done in university and government research labs, and it takes time for any given biomarker to be proven accurate, as well as to be adopted by physicians in the clinic. 

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.