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Biobanks and Human Genetic Research

BY: Divya Narayan | Category: Applications | Submitted: 2013-12-29 08:26:36
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Article Summary: "A biobank is a storehouse of human biological samples collected for research purposes. A biobank collects only those biological samples which contain genetic material. These biological samples are collected and stored according to the age, ethnicity, and the prevalent environmental conditions..."

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What are biobanks?

A biobank is a storehouse of human biological samples collected for research purposes. [1]

The various types of human biological samples collected for research purposes include [2, 3, 4] -
• Blood (whole blood and dried blood)
• Saliva
• Synovial fluid
• Plasma
• Serum
• Surgical tissue
• Hair
• Feces
• Skin cells
• Organ tissue
• Urine
• Purified genetic material (DNA and/or RNA)

A biobank collects only those biological samples which contain genetic material. These biological samples are collected and stored according to the age, ethnicity, and the prevalent environmental conditions. [2] The genetic material obtained from these biological samples is analyzed and the results of such analyses can be applied in various fields.

Need for biobanks

• Study of genetic material of various organisms.
• Collaboration of biobanks with hospitals and other research centres for pathological evaluation and genetic testing.
• Storage of various biological samples which can be donated during times of emergency. For example, blood and/or plasma stored in a biobank can be donated in cases of emergency.
• Use of biobanks for research purposes reduces dependency on animal models of study. [2]

Types of biobanks [5, 6, 7]

Depending upon the purpose of the biobank, the types of biobanks are as follows -

• Population-based
• Disease-oriented
• Biomolecular research centres
• Tissue banks
• Biobanks for clinical trials
• Case-control biobanks
• Repositories for cell and model organisms
• Centres for biomolecular technologies
• Other types - Guthrie cards, cord blood, stem cells

Significance of biobanks in human genetic research -

The human species is extremely diverse. Certain genetic variations are specific to ethnicities, communities, and races. The development of the Human Genome Project (HGP) has increased the significance of these biobanks with regards to the field of genetic research.

The significance of biobanks in the field of human genetic research is as follows -

Study of genetic variation - Genetic variation arises due to crossing-over during the process of meiosis. As the distance between two genes increases, chances of crossing over also increase. Biobanks are extremely useful in the study of genetic variation arising due to crossing over. As a result, construction of genetic linkage maps and study of evolutionary patterns can take place. [8]

Study of genetic basis for disease - Genetic material obtained from biological samples stored in a biobank can be used to study the genetic basis for the occurrence of various diseases and disorders. Some genetic diseases are directly caused by faulty genes (such as Down syndrome, Hemophilia, etc.), whereas other diseases and disorders may occur due to genetic predisposition (autoimmune disorders, lifestyle disorders, etc.) [9]

Forensic research - Analysis of genetic material is a critical aspect of forensic studies. Genetic material obtained from a crime scene can be analyzed and compared with the stored genetic material in a biobank. In a biobank, various facilities are available for the analysis of biological specimens and the genetic material obtained from them. Genetic material obtained from biobanks can also help in solving issues related to paternity. However, a lot of controversy surrounds the use of biobanks in the field of forensic research due to fear of misuse of genetic material. [10]

Cancer research - In the field of cancer research, biobanks are the biggest repositories of genetic material required for research purposes. Study of such genetic material obtained from a biobank can also help in the development of therapeutic agents which possess highly specific action. [11]

Stem cell research - Stem cells obtained from the umbilical cord have great potential applications in the development of therapeutics. Stem cells obtained through cord blood also have great potential clinical applications such as repairing of the myelin sheath of neurons. Cord blood cells have also been found to be useful in treating stroke, ischemia, cardiovascular disorders (myocardial stress), etc. [12]

Pharmacogenomics (personalized medicine) - Pharmacogenomics is a field of pharmacology which focuses on development of therapeutics according to the genotype of an individual. There are certain drugs which trigger hypersensitive reactions in certain individuals and cause numerous side-effects as well. Development of drugs through pharmacogenomics ensures the complete elimination of hypersensitive reactions and side-effects with regards to conventional therapy. The genetic material required for the study and analysis of the genotype of the individual (so as to develop gene-specific therapy) can be obtained from biobanks.

Future applications of biobanking

Research related to lifestyle disorders - Genetic data released from a UK Biobank states that a father's chances of suffering from diabetes has a direct influence on the birth weight of his children. [13]

The Taiwan Biobank database states that the people of Taiwan have a much higher percentage of body fat levels as compared to other populations throughout the world. [14]

These findings can enhance the use of biobanks with regards to research related to lifestyle disorders, thus having a massive impact on the way lifestyle disorders are looked at in the current scenario.

Treatment of digestive disorders - At the Pennsylvania State University and Medical Centre, a digestive disorder such as Inflammatory Bowel Disease (IBD) is treated by obtaining the blood sample and DNA data available from the locally-maintained Irritable Bowel Syndrome biobank. This biobank helps in the investigation of various factors contributing to IBD in the local population such as genetic, environmental, microbiological factors, etc. [15]

Such locally available biobanks can be maintained for various other diseases as well. Treatment thus recommended can be highly specific and relatively inexpensive.

Predicting response to prescribed medication - Researchers at the Tel-Aviv University have discovered a gene through genetic data available from a local biobank (National Laboratory for the Genetics of Israeli Populations) which predicts the response of patients to drugs such as Selective Serotonin Reuptake Inhibitors (SSRIs), recommended for patients suffering from depression. [16]

If the principle of this study is applied to other diseases, and similar genetic data is obtained which can help predict the response of patients to a particular therapy, treatment costs can be reduced to a considerable extent.



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