Think of the last time you went to the doctor—say, to have a routine blood test, or a mole removed. Do you ever wonder what happens to the extra stuff hacked off your body?
Sometimes, the hospital burns it. But other times, the tissue is kept and sent to labs for research. Using your body parts in this way is legal: As long as your name is stripped off the test tube, it’s considered an anonymous sample. But advances in genetics and new computer technologies are making this practice less anonymous than it once was, calling into question what doctors should be allowed to do with the pieces of you they take without asking permission. Or if they do, how your privacy can be protected.
HeLa, short for Henrietta Lacks, is the reason bioethics is in the news today, the canonical example of the problem with non-consent. It’s the codename for the cancerous cell line taken, without permission, from an African-American tobacco farmer and mother of five in 1951. The cells were unique: They copied themselves in petri dishes, which no human cancer cells ever had before. HeLa cells have since been involved in 74,000 studies, helping to develop cancer medicines and many other treatments. But Henrietta never gave her cells for research: They were taken, at a time before doctors had a concept of medical consent. Far from being anonymized, the abbreviation for her name became synonymous with research on cancer cells within the scientific community.
"Right now, many if not most [patients whose tissue is used for research] aren't giving consent, because they aren't being told that their tissue is being used in research, because they're considered anonymous samples," says Skloot. "All this material is still daily being collected from people without their knowledge: Scientists are very clearly saying 'we can identify you from that [DNA]'... If you tell people, 'we want to collect these samples to use in research,' most people will say yes. The problem comes when they find out after the fact."
Shockingly, the scientific community made that mistake again with the Lacks family, 60 years after the initial transgression. In March, the genome of the popular HeLa cell line was sequenced and published by a lab in Germany. This prompted an uproar from journalists, geneticists, and bioethicists who were outraged that the Lacks family had again not been asked for permission. The data was retracted within days, and no more was seen of the HeLa genome until Nature republished it last Wednesday, along with an agreement between the Lacks family and Francis Collins, director of the National Institutes of Health (NIH).
Most of the reactions to the agreement have been celebratory: The racially tinged exploitation of the Lacks family by opportunistic physicians who abused their access to Henrietta's tissue, and kept her family in the dark for decades, has finally been set right. But some critics believe that this event raises more medical ethics concerns than it resolves.
The deal with the Lacks family went a long way toward righting an historical wrong. Skloot also sees it as an opportunity to identify the holes that still exist in the medical consent process. It’s important that we fill them: Due to advances in genetic technology, making sure that collected samples remain anonymous is becoming nearly impossible.
Thanks to genomic hacks by geneticists at MIT and elsewhere, computers and public genetic databases are fast making it possible for someone to infer your identity from your anonymous genes. What does this mean for you? Imagine a scenario right out of the movie Gattaca: A stranger could pick up a hair, or a coffee cup you’ve drunk from, and send a DNA sample off to a genetic testing company like 23-and-Me.
The company would send back a list of your genetic assets and risks. In a worst-case scenario, a would-be gene hacker could out you to an employer as a likely drug addict, or emotionally unstable, at risk for depression or suicide or PTSD. Your boss might fire you, your spouse might dump you, insurers might turn you away.
Unless we pass new laws protecting patients soon, all of this will become possible to decode from the samples of your body that you leave at doctors’ offices and hospitals all the time.
Unfortunately, researchers don’t seem particularly eager to make changes. Skloot’s book was an international best-seller for two years after being released in 2010. Now, it’s required reading at some medical schools and read by just about everyone who works in biomedicine. Immortal Life was featured on a popular Radiolab episode, and Oprah Winfrey is producing a movie version for HBO. So why didn’t the NIH address the blood on the biomedical establishment's hands back when the book first came out?
"Frankly, in the wake of the publication of the book, genome scientists were not out there saying 'well, wait a minute, let's think about what are the likely next steps and whether we should alter our course given this circumstance,’" says Dr. Kathy Hudson, NIH's Deputy Director for Science, Outreach and Policy.
"Hindsight is 20/20. We ended up getting involved when we became aware of the [HeLa DNA] sequence and the concerns of the family, and we got involved not because of the NIH but because we wanted to make sure the biomedical enterprise was able to advance and make use of this sequence. So: Why didn't people? I don't know. Anyone might have thought of this. But I don't think anyone thought 'Hey, let's think about what might be coming down the pike and engage the family in this.' Didn't hear it," says Dr. Hudson.
The Presidential Bioethics Commission in October 2012 released a statement on "Genomics and Privacy," but to date, laws are inconsistent. In most states, it's legal for doctors to take blood or tissue samples for research, without consent, as long as they were taken for a medical reason and stripped of 'identifying information' like a name or social security number.
"We're trying to cobble together an adequate solution for a pretty inadequate past," NIH’s Dr. Hudson explains. "But moving forward, we'd like to create a system that will work more effectively than this."
When asked what the NIH is doing to upgrade the medical consent process to the era of identifiable genetic samples and open-access Internet databases, Dr. Hudson pointed to a joint proposal published by the Offices of Health and Human Services and Science and Technology Policy in July 2011 called "Advance Notice of Proposed Rulemaking (ANPRM)."
"This ANPRM seeks comment," the 20-page document’s introduction explains, "on how to better protect human subjects who are involved in research, while facilitating valuable research and reducing burden, delay, and ambiguity for investigators." The document touches on all the right issues—consent for medical samples, genetic privacy concerns and family rights—and calls for suggestions from the general public, doctors, and scientists. But we’ve seen little progress. The government has been seeking comment for two years, and has not provided an update on when the policy might be put in place.
"Who knows where, but somewhere along the line that thing stagnated," Skloot says. "And it needs to be unstagnated."
[Image: Flickr user Max Braun]