How Should the U.S. Regulate Genetic Testing?
Posted by Jessica Cussins on October 16th, 2014
Stanford Law School’s Center for Law and the Biosciences held a conference Monday to tackle the increasingly important question, ‘How Should the U.S. Regulate Genetic Testing?’
I attended the conference along with some hundred others to hear experts address the question from various perspectives: government, professional, payor, industry, and academic. Notably, social and ethical perspectives were not explicitly included, and only inched in at the peripheries.
Nonetheless, the conference was fascinating and incredibly informative. The biggest take-away of the day was that better regulation of genetic testing is certainly needed, but that it is a hugely complicated problem, from every perspective.
Center Director Hank Greely asserted that population-wide, next-generation sequencing will be the future and asked how we can maximize the benefits of this coming sea change while minimizing the harms. This may be obvious, but it’s actually critical, since in some cases people are receiving life-changing information of relevance to the whole family from these tests.
The timing of the conference couldn’t have been better, since the FDA just released its draft guidance on laboratory developed tests (LDTs) for comment last week, and will be holding a webinar October 23 to address questions. While not all genetic tests are LDTs, an awful lot are, and the FDA has good reason to cast light on this opaque world:
The FDA has identified problems with several high-risk LDTs including: claims that are not adequately supported with evidence; lack of appropriate controls yielding erroneous results; and falsification of data. The FDA is concerned that people could initiate unnecessary treatment or delay or forego treatment altogether for a health condition, which could result in illness or death.
Concerns about genetic tests are often described as three-fold: do they provide analytical validity, clinical validity, and clinical utility (or patient validity, as Greely put it)? In other words, do genetic tests accurately report the sequences they say they’re analyzing? Do they actually correspond to a given health condition? Is there any clinical benefit of knowing this information? And what should we do with the information we get? The current lack of over-arching regulation, oversight, or independent review of genetic tests makes it nearly impossible for anyone to answer even the first of these questions, let alone the others.
There was broad agreement among the speakers that the interests of patients (or “patients/consumers” in the case of 23andMe) need to come first. Multiple people noted inadequacies or irregularities among CLIA certified labs and tests and welcomed more comprehensive regulation. For example, Megan Grove, a genetic counselor at Stanford, pointed out that genetic counseling does not scale up to genomic counseling and insisted that counselors need more guidance on how to communicate an onslaught of (quickly changing) information to their patients.
Kathy Hudson from the NIH argued that we need a “nimble and risk-based regulatory system.” She pointed to President Obama’s recent remark that “we’re going to have to change how we regulate some of this stuff,” and advised us to “watch this space.” Pamela Bradley from the FDA echoed this sentiment, insisting that we need a framework of oversight in the interest of public health in order to realize the promise of personalized medicine. She stressed the FDA’s desire to hear from the public on the agency’s new guidance, as well as its desire to improve what can be a dangerous marketplace, while continuing to encourage innovation.
A couple speakers from the “professional perspective” were vocal in their disagreement. They strongly rejected “dual regulation” by the FDA and CMS (Centers for Medicare & Medicaid Services, which administer CLIA), asserting that if the agencies don’t communicate well enough with each other they will end up caught in the middle, with increased burdens and costs for their labs.
However, John Richardson of the National Society for Genetic Counselors pointed out that he is seeing 30% of tests being ordered inappropriately and that too often there are pressures coming from heavy marketing to primary care physicians, at the expense of the best interests of patients.
The sole voice from the “payor perspective,” Wade Aubry, formerly of the Philip R. Lee Institute for Health Policy Studies, said he believes payors will be happy with the FDA’s efforts because they want to see more evidence of validity so they know they're only paying for tests that are clinically useful.
The “industry perspective” was remarkably diverse. Mya Thomae of Illumina was happy with the FDA’s willingness to be flexible with her company in allowing their sequencer to gain fast approval, and felt that CLIA regulations aren’t “cutting it” because not all labs are compliant. Ethan Knowlden of Complete Genomics (recently acquired by BGI) had a very BGI-esque dream of the “ultimate genetic test,” which could be compared to a vast whole-genome sequencing database. Jill Hagenkord of 23andMe smiled a lot and insisted multiple times that 23andMe is “working with the FDA to move forward.” Regarding the new FDA regulations, she said she agreed with the agency’s concerns, but wanted to see them balanced against the costs to innovation, access, and cost.
Ken Song of Ariosa was impressively honest, stating that his new company has not done everything right and that oversight is definitely needed, though he was concerned about whether it could keep pace with the evolution of testing processes. Importantly, he pushed back against the notion that more is always better, pointing out that without a high degree of accuracy and complex counseling, this notion can be dangerous in the realm of genetic testing. John West of Personalis, whose whole business model is based upon providing accurate genomic medical information, went so far as to suggest further regulations from the FDA to monitor the quality of tests instead of merely whether they do what they say they will.
From the “academic perspective,” Stanford Law’s Jacob Sherkow argued that patents are yet another kind of regulatory tool. He shared his concern that they will increase costs and decrease competition, noting that there are countless patents right now blocking ways of looking at and manipulating genetic data, and turning valuable information into “trade secrets.” Bob Cook-Deegan of Duke University also talked about gene patent problems, particularly of the Myriad variety, which have really impeded information flow at the expense of researchers and patients. He suggested three possible solutions to this problem: That payors insist they’ll only pay for tests that have independently reviewable data, that consumers demand access to their own data, or, that we build a system that enables this flow of information from the outset. Cook-Deegan made a strong case for moving away from the language of ownership of genetic data so that we can work towards improved access, transparent analysis, and collaborative science.
After a healthfully heated concluding discussion among all speakers about the appropriate degree and kind of regulation, Greely joked that he wasn’t sure whether the conference had managed to really get a handle on its central question, but that he felt gratified to see everyone wanting to “do the right thing.” I’m not sure I would be quite as generous, since notions of the “good” or “ethical” played such a supporting role to the “practical” and "innovative" throughout the day. But I wholeheartedly agree that there is a real need here, and found it heartening and invigorating to see so many intelligent people, from so many perspectives, working to address it.
A Season of Surrogacy Scandals
Posted by Marcy Darnovsky on October 16th, 2014
The summer and fall of 2014 have been a season of surrogacy scandals revealed. Media reports describe disturbing practices taking place in one country after another, including Thailand, Australia, China, and Mexico.
A front-page series in The New York Times by Tamar Lewin seemed to kick off a run of high-profile coverage. Lewin’s lengthy July 5 story focuses on people who come to the US for contract pregnancies because their own countries prohibit them. It gives plenty of play to surrogacy “success stories,” but also includes sharply critical comments by women’s health advocates from Canada and Germany, neither of which permit commercial surrogacy.
“Just like we don’t pay for blood or semen, we don’t pay for eggs or sperm or babies,” said Abby Lippman, an emeritus professor at McGill University in Montreal who studies reproductive technology. “There’s a very general consensus that paying surrogates would commodify women and their bodies. I think in the United States, it’s so consumer-oriented, so commercially oriented, so caught up in this ‘It’s my right to have a baby’ approach, that people gloss over some big issues.”
“We regard surrogacy as exploitation of women and their reproductive capacities,” [said Dr. Ingrid Schneider of the University of Hamburg’s Research Center for Biotechnology, Society and the Environment]. On July 27, Lewin followed up with another front-page feature, this one about the notorious Los Angeles-based surrogacy agency Planet Hospital, which recently declared bankruptcy after defrauding dozens of intending parents and women working as surrogate mothers.
A few days later, the sad story of “Baby Gammy” hit the headlines and ricocheted around the world. An Australian couple was accused of abandoning their baby son, who has Down syndrome, with his Thai surrogate mother and returning home with his twin sister. It was then discovered that the husband had been convicted of multiple child sex offenses that took place between the early 1980s and early 1990s, against girls as young as five. Stories echoing one or another aspect of Baby Gammy’s situation soon surfaced, including:
August and September also saw accounts in prominent news outlets about surrogacy free-for-alls in China and Mexico. A New York Times article about the “shadowy world for Chinese surrogates” revealed a “booming underground market in surrogate motherhood” that produces more than 10,000 babies a year. The cost? Up to $US 240,000 for “a baby with your DNA, gender of your choice, born by a coddled but captive rural woman.”
- several separate incidents of children born in the US, the UK and India from contract pregnancies and rejected because they had Down syndrome or were the “wrong” sex
- an Australian man who was charged with sexually abusing twin girls he fathered through surrogacy
- a Japanese businessman who fathered 16 children in a little over a year with Thai surrogate mothers, claiming that he wanted a large family
- a Thai surrogate mother who had second thoughts about relinquishing the baby she was carrying, and was threatened by the surrogacy clinic and police working for them.
A similar story in the South China Morning Post provided additional detail about the money involved in these transactions: $US 80,000-160,000 in total costs; sex selection for just another $500; and, as specified by contract, “if the surrogate mothers become infertile as a result of obstructed labour, customers only need to pay a compensation of 50,000 yuan” ($US 8152). Some of the Chinese women who work as surrogates are taken to Thailand for delivery. The reporter explains that a broker reassured journalists posing as clients that this was perfectly safe by telling them, “Even the police wouldn’t dare to intervene there.”
A cross-border surrogacy boom in Mexico was covered in late September by The Guardian, in an article about “tales of missing money and stolen eggs.” Some surrogacy arrangements go smoothly, the report says, but “there are horror stories of unscrupulous or mismanaged agencies stealing money and eggs, subjecting pregnant women to psychological abuse, and cutting corners on their payments.”
Commissioning parents’ embryos are sometimes created and implanted in the resort area of Cancún, but surrogate mothers give birth hundreds of miles away in the state of Tabasco, where the civil code permits gestational surrogacy. However, these surrogacy arrangements are supposed to be altruistic, so the entire commercial surrogacy industry is operating in a “legal grey area.” The Guardian reporter points out that this means that
the surrogacy boom in Tabasco is theoretically rooted in a groundswell of poor women from a relatively conservative culture who are motivated by a generous urge to give affluent, often gay, foreigners the chance to become parents in return for little more than thanks, and the payment of their expenses.
Are these troubling incidents, all of which surfaced over two short months, just anomalies? Or are we starting to see what cross-border surrogacy really looks like, in contrast to the heart-warming images of happy babies and parents on fertility clinic websites?
Previously on Biopolitical Times:
Dear Facebook, Please Don’t Tell Women to Lean In to Egg Freezing
Posted by Jessica Cussins on October 15th, 2014
The workforces of Facebook and Apple are 69% and 70% male, and the companies have been getting a lot of flack for those figures. In their latest bid to attract and retain more women, the tech giants have come up with a technical fix: offering female employees a $20,000 benefit toward elective egg freezing.
According to a statement from Apple about the program, "We want to empower women at Apple to do the best work of their lives as they care for loved ones and raise their families."
Surely what they meant to say was, “We want women at Apple to spend more of their lives working for us without a family to distract them.”
The Facebook version might be, “We don’t want women leaning out to start families, so we’re paying them not to!”
The move by Apple and Facebook is a boon for the companies marketing social egg freezing in Silicon Valley, New York City and elsewhere. But despite what EggBanxx wants wealthy Manhattanites to believe, freezing your eggs is not a magic wand that will allow you to raise a family at your own pace, away from the pressures of your workplace and biological clock.
Unfortunately, when you work for a company that wants you to spend your entire life at the office, in a society that under-prioritizes all occupations traditionally undertaken by women, there will never be an ideal time to start a family.
Moreover, the chance that a frozen egg will actually result in a child is still low – much lower than the smiling babies on the fertility clinic and egg freezing websites would lead you to believe. But as Robin Marantz Henig put it after attending EggBanxx' infamous egg freezing cocktail party, in “an evening of `The Three F’s: Fun, Fertility, and Freezing’—[there are] no F’s left over for `Failure Rates.’”
In fact, egg freezing is still explicitly discouraged for elective, non-medical reasons by both the American College of Obstetricians and Gynecologists and the American Society for Reproductive Medicine. Not only does egg freezing fail to guarantee that you’ll end up with a child, it also poses serious and under-studied short and long-term health risks to women and children.
The process of egg retrieval involves weeks of self-delivered hormone injections to hyper-stimulate your ovaries, which can lead to nausea, bloating, and discomfort, not to mention blood clots, organ failure, and hospitalization in rare cases. The surgery to remove your eggs involves a needle being inserted into your pelvis, with risk of internal bleeding and infection. Long-term impacts on women’s health are under-studied, but seem to include increased rates of breast, ovarian and endometrial cancer.
Facebook and Apple are right to want more women in their workforce. This latest move, however, is more likely to alienate than attract them.
Additionally, those frozen eggs can only become children if you use in vitro fertilization, which means greater risk of multiple gestation, preterm birth and fetal anomalies. It is not yet known if freezing eggs for multiple years will further impact children’s health outcomes.
What we need are family-friendly workplace policies, not giveaways that will encourage women to undergo invasive procedures in order to squeeze out more work for their beloved company under the guise of “empowerment.”
The United States is the only developed country in the world without paid maternity leave. At the point that women do have children, no matter what age they are, they end up taking pay cuts whose effects can last for decades. Having one’s employer pay for egg freezing doesn’t push back against the status quo, but puts the onus on women to change themselves (Gee, why does that sound familiar?)
This policy could also send the problematic message that young women who don’t choose this option are less serious about their careers. "You want time off when? Oh by the way, do you know about this new perk we offer?"
Previously on Biopolitical Times:
Let's Play God (or not)
Posted by Pete Shanks on October 14th, 2014
Reason magazine, the libertarian monthly, is not known for a religious approach to public policy. Indeed, science correspondent Ronald Bailey has described religion as one of "the deep puzzles in human evolution." (Another might be the fact that their promotional material features a present-tense quote from Christopher Hitchens, who transcended this mortal plane nearly three years ago as a staunch atheist; could his ghost have learned different?)
But the headline to Bailey's column in the November 2014 issue is refreshingly direct:
Let's Play God!
The piece itself is mostly a rehash of the discussion about "gene drives" initiated in July by Kevin Esvelt, George Church et al., though Bailey adds a typical gratuitous smear about the "usual Luddites" who might complain. If the topic seems a little old hat, well, the article is in fact a lightly altered version of a column he published online in July, when it was current. The headline of that, however, was:
'Editing' Life With Gene Drives is a Great Way to Play God
(What would be a mediocre one?)
Clearly, Reason's print edition is proof of the existence — of an editor.
Previously on Biopolitical Times: