Medical researchers use biospecimen samples to investigate ways to prevent, diagnose and treat major illnesses like heart disease and cancer. Donating blood, serum, plasma and tissue is a way that some patients and their families cope with disease and the challenge of having a loved one who is sick. Helping researchers make discoveries that can advance medical research and improve the treatment of others gives donors comfort and facilitates the progress of scientific inquiry which pushes treatment forward.
Patients may volunteer to donate samples that are collected during a medical procedure like a surgery or biopsy. In most cases there are samples left over after the doctor uses what he or she needs for the patient’s medical tests. Upon consent, the tissue or blood samples that remain after the patient's procedure is completed are shipped to a repository and used for research. Additional procedures are not generally required although a patient could elect to donate samples from a procedure not related to their medical care such as a blood draw or saliva swab.
Biospecimens are handled and stored carefully. Often they are frozen, prepared as microscopic slides, fixed in paraffin wax or DNA is extracted. This results in a variety of outputs like tissue microarrays and FFPE tumor tissue for cancer research. These diseased tissue samples may be purchased from commercial repositories that handle storage of the samples and allow investigators to buy tissue samples subsequently used by researchers in public institutions or private for-profit companies.
One important area where the collection of biospecimens is helping to advance research is the field of cancer genomics. The collection of fresh frozen tissue samples facilitates high quality scientific research in both basic science and clinical contexts. Oncology tissues for genomic research must meet a stringent set of requirements so that genomic information removed from the tissue can be used for sequencing and analysis. One example of such a project is The Cancer Genome Atlas (TCGA). Their strategy for collection builds a robust data set by focusing on both the quality and quantity of the underlying data. TCGA obtains the statistical power necessary to build a genomic profile of each cancer by examining up to 500 samples of each tumor type. This data from these human tissue samples is key to identifying optimal targets for drug development. Further, for all individuals studied, samples of both cancerous and normal tissue are collected. These pairs of samples allow the researchers to investigate the genomic changes that underlie the development of the cancers.
Donating blood and tissue biospecimens for use in medical research is an important way that patients with serious diseases can contribute to the progress of vital research and the development of new therapies. Access to these samples via public and commercial biorepositories allow clinical and basic researchers to build robust data sets and drive research forward.