TARRYTOWN, N.Y. — One reason is cure for cancer remains elusive is because the medical research community is not using high-quality, highly-anotated human-tissue samples in its examination of human disease, an experts told the second annual Biobank Summit.
“”Garbage in; garbage out,”” said
Carolyn Compton, chair of the department of pathology at Montreal-based McGill University, about the usefulness of inadequate tissue.
In fact, she added, few of the biorepositories, or biobanks, in the U.S. are truly suited to post-genomic research. And even the “”best-practices”” facilities haven’t the capacity to serve the entire research community, she explained.
Biobanks, which originated in pathology departments in universities more than 100 years ago, are “”physical libraries of human specimens,”” including tissue, fluids like serum, blood and urine, and molecular derivatives such as DNA, RNA and protein, Compton said.
They supply scientific researchers with biological samples and clinical data. These samples, along with other patient data, can be used to discover the genetic basis of disease. The data kept inside biobanks can potentially cut the time to develop a drug or diagnostic by providing the critical samples and information needed during research and development.
Compton said there are more than 300 million specimens for research in the U.S. alone. But because they’re of varying quality, are unregulated and adhere to no standard operating procedures, “”you’re dealing with a set of unknowns with any tissue sample that you name.””
A lack of standardization, in fact, is making it hard for researchers to produce one other’s data — even though the industry is still at the stage where it’s only encouraging researchers to simply publish their discoveries, said Anna Barker, deputy director of advanced technologies and strategic partnerships at the National Cancer Institute in Bethesda, Md. Its goal is to eliminate suffering and death due to cancer by 2015.
Barker said biobanking progress is also stunted by the failure to standardize language. For instance, a prostrate cancer patient may have his affliction described as anything from prostatic carcinoma to prostatic neoplasm, or adenocarcinoma, she said.
Moreover, many human specimens were donated to researchers before the human genome was mapped, and therefore previous consent is insufficient today.
Patient privacy is another factor that didn’t receive enough attention in the pre-genomic era. Heightened privacy concerns have emerged regarding the ability to collect, track, store and disseminate clinical and genomic data using new IT facilities research, added Barker.
Yet, even if problems like confidentiality and tissue quality are resolved, argued Compton, the underlying question remains: Who gets access to human specimens — academics, drug makers or other parties?
As the scientific community wrestles with these challenges, information-based medicine, also known as personalized medicine, is “”on the verge of a historic transformation”” that over the next two decades will impact the way we’re treated as patients, Caroline Kovac, general manager of IBM health care and life sciences, said.
It will help better understand disease at the molecular level, develop targeted drugs based on genomic insights and deliver individualized treatments based on medical history and genetic disposition, Kovac explained.
“”The belief is we’re moving in the direction of predictive medicine.””
Although cancer is the “”quintessential genetic disease,”” leading much of the work within biobanks, the benefits of research will “”flow down to other diseases,”” promised Barker.
Around the globe, biobank activities have accelerated in recent years. Apart from those based in the U.S., the industry also boasts:
- the UK Biobank, with 500,000 participants and US$73 million from public and private sources;
- the UK’s National Cancer Tissue Resource, with US$8 million in funds;
- Biobank Japan, with 300,000 participants and US$180 million in government financing;
- deCode Genetics in Iceland, with 80,000 participants and US$135 million to $250 million in funds; and
- Estonia Genome Project, with 100,000 participants and US$7 million in funds.
The biobank conference, held in a suburb of N.Y. from Nov. 15-17, drew on the discussions of the first summit held last March in Nice, France, and aimed to share best practices among the practitioners in science and technology and raise the visibility of biobanks, among other key issues.