Profit from public research: How should study subjects’ privacy be protected?

Boston initiative could be just the tip of the iceberg

The recent move by Boston University to form a private company to sell data derived from clinical information originally collected during its publicly funded Framingham Heart Study is drawing raised eyebrows from bioethicists across the country.

Many say the project represents the "tip of the iceberg" in what will quickly become an onslaught of research institutions taking a second, profit-focused look at the wealth of clinical, demographic, and genetic information collected over years of performing large-scale research.

Following the completion of a "map" of the human genome this year, tissue samples and clinical information collected from large groups of study participants could have value way beyond the limits of the original research protocol.

"Universities all over the country have all kinds of tissue and blood samples sitting on shelves," advises Maxwell J. Mehlman, JD, professor of law and director of the Law-Medicine Center at Case Western Reserve University School of Law in Cleveland. "This is going to be a very compelling means by which they could generate revenue for their institution."

Boston University administers the 52-year-old Framingham Heart Study, an ongoing study of 10,000 residents of Framingham, MA. Participants in the study volunteered to be followed by researchers and submit a large amount of personal information, including medical histories, medical records, and DNA samples, in order to help determine causes and risk factors for heart disease and strokes. Raw data collected by the study are freely available to scientists and researchers worldwide, who have published more than 1,000 research papers based on this information.1

However, the university announced in June that, with the help of $21 million in venture capital from private investors, it would form Framingham Genomic Medicine, a company that will compile the raw data and develop computer tools to analyze and expand them. The company will then market the data to biotechnology and pharmaceutical companies for use in developing new genetically based diagnostic tests and drugs.

Raw data from the study will remain accessible to the public, but the company wants to establish ownership of the enhanced data, particularly the process of genotyping or documenting the variations among the participants’ DNA. Requirements for protection of participants’ confidentiality and rights to privacy as well as the company’s proprietary rights will be negotiated between the university and the National Heart, Blood and Lung Institute (NHBLI), the division of the National Institutes of Health that provided almost $40 million in funding for the heart study.

Consent from participants

A key question for the university — and for other institutions seeking to use new genetic information derived from study material — is whether they must obtain consent from the study participants for the new use of the old information.

According to an article detailing the announcement of the company’s formation, the university is still sorting this out with the NHBLI but believes the original consent forms covered future commercial uses of the participants’ information.1

However, adequate informed consent in this instance would require that the participants have been informed of the vast potential uses of their genetic information and the risks involved in disclosure of this information, even anonymously, says Mehlman.

"I am not familiar with the consent used, but considering the length of time that the study has been going on, it is hard to believe that the participants would have been adequately informed of the possible future uses of their information, considering the researchers couldn’t have been aware of the potential at the time [the study began]," he explains.

For example, the DNA from the blood and tissue samples can be replicated infinitely, meaning that the information obtained is not only used once but potentially thousands or millions of times over. Even if the DNA is delinked from individually identifiable information, or "anonymized," it still poses privacy risks to the participants, he adds.

"The information will still be linked to the city of Framingham," he says. "What if they discover a genetic mutation related to a certain disease, or even intelligence. If there were a genetic indication that the residents had lower intelligence, that information is potentially damaging to the city and its residents."

Mehlman cites the example of studies of Ashkenazic Jewish women used to isolate the BRAC1 and BRAC2 genetic mutations linked to the development of breast cancer. "Because this information was discovered initially in a Jewish population, breast cancer came to be seen as a Jewish’ disease by some people," he states.

In addition, even if the participants gave consent for future commercial use of their tissue samples, it is not certain that they understood they were providing samples of their DNA, speculates James W. Keller, MD, chair of the human subjects committee in the office for sponsored research at Emory University in Atlanta.

Use is for public good

Proponents of the use of the information may argue that the genetic data could provide lifesaving treatments and tests not currently available and that the benefits to society outweigh the individual risks to the study population, says Keller.

"I tend to hold the opinion that the rights of the individual take precedence, but there are those, particularly in public health, who disagree with me," he says.

Due to the number of years the study has been in existence, it may be difficult — if not impossible — to contact the participants for additional consent. Also, the participants’ physicians or the physicians who enrolled them in the study should be the ones to contact the individual participants and inform them of the additional use and the fact that someone from the Framingham Genomic company may seek more information from them, says Keller. That also may not be feasible.

Should the additional use of the genetic information be prohibited if those stipulations cannot be met?

"In my opinion, the university needs to make sure that it has the appropriate consent for the additional use of the participants’ information," says Keller, "and they should be absolutely clear about how the confidentiality of that information will be protected. What demographic information will be provided to the company’s consumers? How will the privacy of individual participants be maintained? Who will have access to the linkage file?"

Organizational concerns

With the rapidly advancing technology available to research the genetic causes of disease, research institutions must grapple with the larger ethical concerns of allowing the influence of the private sector, says John Banja, PhD, clinical ethicist at the Center for Ethics in Public Policy and the Professions at Emory University.

The situation creates a symbiotic relationship. Pharmaceutical and biotechnology companies need the expertise available at large research institutions to develop new drugs and tests, and the institutions need the money those companies have to fund the research, he says.

"But when you start looking at the issue of an entrepreneurial university,’ as it is known, you have to consider the possible ethical implications," he says.

For instance, if an institution is doing research on the development of a new drug, it may ask its graduate lab or research assistants to sign confidentiality agreements, he says. That would prevent the graduate students from publishing research papers about their work — a requirement to advance their careers.

With the added influence of the profit-driven private sector, institutions may lean toward funding research that has more profit potential but is not as groundbreaking or interesting, he says. There will also be a lot of pressure to make research results look "better" than they actually may be, he speculates.

"Investors in companies want to see results, and, if the research studies don’t justify the investment, the funding may be withdrawn," he explains.

Institutions will have to acknowledge the need for the input from the private sector while determining their ethical responsibilities to conduct research for the public good and how those interests will intersect with the profit motives of the private sector and be protected.

"What are the institutional or organizational mores that govern how the institutions relate to their various constituencies?" he says.

Another ethical complexity involves the use of public funds for a study in which some data derived from the information collected is eventually restricted or licensed by a particular company. In this case, genotypes derived from the DNA provided by study participants may be deemed proprietary information owned by Framingham Genomic Medicine.

The Framingham Heart Study is funded primarily through a government agency using public funds. Should a private company be able to restrict the public from information that would not be available without public funding? Is it fair for a university or private company to profit from genetic technologies, without also enriching the individual whose genes provided the base for the technologies’ development?

"That is a difficult issue," says Banja. "Some would argue that this information should remain in the public domain. However, others would argue that the company provided the expertise and funding that made the information useful."

The debate continues

According to the proposal for the Framingham data at this point, the raw data are publicly available, and it is up to the NHBLI and the university to determine what the company can license and claim ownership of.

As for the participants, courts have held that they cannot claim ownership of their DNA, essentially their property, once they have surrendered a sample for study, say Banja and Keller.

However, ethicists are divided over whether the participants or the public at large should receive some sort of compensation for providing this benefit to the company to symbolically "compensate" the participants for the use of their property.

Plans have been discussed that call for Framingham Genomics to donate stock to a charitable trust for the town of Framingham and pay for an ethics oversight committee and science education in the town’s schools.


1. Kowalczyk L. Ethicists debate plan to sell heart data. Boston Globe. June 17, 2000:C1.

Maxwell J. Mehlman, Case Western Reserve University, School of Law, 11075 E. Boulevard, Cleveland, OH 44106-7148.

James Keller, Office of Sponsored Programs, 1784 N. Decatur Road, Suite 510, Atlanta, GA 30322.

John D. Banja, PhD, Center for Ethics in Public Policy and the Professions, Suite 302, The Dental Building, 1452 Clifton Road, Atlanta, GA 30322.