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January 2011 A21

We’re trying toget informed

consent aboutunknown futureuses. —DebraMathews, PhD

I ncreasingly, institutions collect, store andshare genomic research data with global

partners while industry not only stores butsells DNA data and samples. DNA banks aregrowing by the day. Who will profi t fi nanciallyby the medical breakthroughs that may come?Further, with each individual’s DNA a uniqueblueprint among billions, can privacy ever beguaranteed?

One prominent illustration of the needfor informed consent in basic science researchgoes back to 1951, the year that scientistsobtained cervical cancer cells from patientHenrietta Lacks and shared them for re-search purposes.

The publication last year of The Immor-tal Life of Henrietta Lacks, a book by medicaljournalist Rebecca Skloot, has helped broadenthe conversation on informed consent, saysDebra Mathews, PhD, a bioethicist who over-sees the Stem Cell Policy and Ethics Programat Johns Hopkins Berman Institute of Bioeth-ics in Baltimore, Maryland.

Neither the scientists at Johns Hopkinsnor any scientists working 60 years ago couldhave foreseen that HeLa cells would contrib-ute to the polio vaccine, expand knowledge ofhuman chromosomes, help map the humangenome, or be named in morethan 60,000 published researchpapers.

In juxtaposition, Lacks was apoor black tobacco farmer whosechildren, wrote Skloot, were keptin the dark about their mother’scontribution to medicine for 2decades. The family was nevercompensated, even as a multimil-lion dollar industry grew aroundHeLa cells. When the book waspublished, Lacks’s family couldnot afford healthcare.

Because of Lacks’s story and ahandful of high-profi le instanceswhere cells or tissues were usedwithout patient knowledge, in-

Applying the Lessons of HeLa Cellsto Today’s Research

formed consent and patientprivacy are now standard com-ponents of research protocolsinvolving donated humancells and tissues. However, in-formed consent is not usuallyrequired for research with ano-nymized discarded tissues, saysMathews.

Such is the case at Vander-bilt University Medical Cen-ter. Vanderbilt collects DNAsamples from every patientthat walks though the doorand provides a blood sample.Instead of signing a separateconsent form to participate in aspecifi c research study, patientsare notifi ed at check-in by staffand through brochures thattheir blood will be added to theDNA bank. Patients can opt-out of donating by checking abox on the standard consent-to-treatment form given to allnew patients.

Only about 5% opt-out,says Jonathan Haines, PhD, director of the

Center for Human Genetics Re-search at Vanderbilt.

All identifying informationis “scrubbed,” then assigned anew unique identifi er, and in-dexed using complex computeralgorithms, says Haines. TheDNA and medical records arethen available for research studieswithout the need to obtain fur-ther patient consent, facilitatingand simplifying research into anarray of diseases and disorders.

Vanderbilt maintains that itssystem guarantees privacy. If theydon’t opt-out, patients relinquishfuture rights to how their bloodsamples are used.

Vanderbilt’s opt-out model is unique, butother institutions have growing DNA banksand are developing their own systems fortagging and anonymizing samples. It’s con-ceivable that one day researchers will face anethical dilemma similar to the Henrietta Lacksstory. Should an anonymous patient who do-nates a valuable “missing link” as impactful asHeLa cells, does the patient have the right toshare in profi ts resulting from commercializa-tion of their body’s substances?

This brings researchers back to the issue ofuse of tissues without specifi c consent. Withsigned consent, the issue of legality is moot,but moral and ethical questions remain.

“The nature of science is we don’t knowwhere it’s going,” says Mathews. “We havethis very new ability to take skin cells and turnthem into pluripotent cells or directly into adifferent cell type—things we could barely

Cover of The Immortal Life of Henrietta Lacks by RebeccaSkloot (Crown, 2010).

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imagine doing earlier. We’re getting close to the point where we’ll be able to sequence an entire human genome for $1,000.”

Recent advances have tremendous impli-cations for tissue sample storage, use, distribu-tion, and privacy, says Mathews. (See “The Fu-ture of DNA Databanks,” below, to learn about one medical center’s approach to collecting and storing DNA.) Although signifi cant gains have been made over the last 30 years, there are still areas needing to be addressed, says Mathews.

With genetic and stem cell research, “we’re trying to get informed consent about un-known future uses,” she says.

Patients often give open-ended access to present and future research possibilities, but

some place restrictions on how their cells can be used. Implementing those restrictions re-quires that a cell bank or a tissue sample or vial forever carry the notation regarding their use. Individual institutions are keeping track of these restrictions, but more and more data are being shared across different platforms with immediate access via the Internet, and usage restrictions can be lost in the sharing process.

“Developing the storage systems and data-bases with all the tracking is a huge endeavor,” says Mathews. “It’s really daunting to think about developing that level of informed con-sent.”

Some of the issues that emerged in 1951 remain with us. While privacy is much more

sacrosanct than in 1951, and great efforts have been made to make donators anonymous, in many cases, a patient’s electronic medical re-cord is tagged to their DNA sample. Despite new identifi ers, can a patient’s unique DNA sequence remain anonymous, particularly if their DNA is tagged to multiple databases?

Lacks’s contribution to science cannot be valued with a price tag. Part of her legacy is the acceptance that patients have rights concern-ing how their cells are used and that informed consent should be a process of education and conversations with patients, not simply a sig-nature on a form.

KATHLYN STONE

DOI: 10.1002/ana.22370

The Future of DNA Databanks Since launching its BioVU DNA repository in 2007, Van-derbilt University Medical Center has collected more than 100,000 discarded blood samples—700 to 900 per week.

When Jonathan Haines, director of Vanderbilt’s Cen-ter for Human Genetics Research, embarked on his pres-ent gene–disease relationship study of multiple sclerosis (MS), the DNA bank provided him with 900 MS cases and 1800 matched controls genotyped for nearly 200,000 genetic markers. The process of launching the study, in-cluding institutional and scientifi c reviews and pulling the samples, took about 3 to 4 months, rather than years, and saved the research center substantial costs. It cost about $4 to pull each sample, says Haines. “This has been a tremendous boon for researchers here,” he says.

BioVU was developed through a collaboration be-tween Vanderbilt’s Department of Biomedical Informat-ics, led by Daniel Masys, MD, the offi ce of personalized medicine, led by Dan Roden, MD, and the Center for Medical Genetics Research. Masys was the principal ar-chitect of the National Center for Biotechnology Infor-mation (NCBI) which hosts data from the Human Ge-nome Project.

The informatics center links the DNA bank—a physi-cal robotic storehouse capable of housing 400,000 sam-ples—to data from the medical center’s electronic medi-cal records system and a research portal that enables investigators to retrieve protocol-specifi c DNA samples along with up to 15 years worth of medical history and clinical notes..—KS

DOI: 10.1002/ana.22371

Vanderbilt University Medical Center’s robotic SmaRTStore currently houses 100,000 DNA samples but is designed to accommodate upwards of 400,000.

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