For a long time now, medicine has had to contend with the genetic variability of the human population. The one-size-fits-all approach that has been the mainstay of medicine for many years is of no help to those who are unlucky enough to have different genetic profiles. Just take, for instance, breast cancer—over 30% of patients over-express the HER2 protein and are, as a result, unresponsive to standard therapy.
As for melanoma, 60% of patients who have the B-Raf protein because of their different genetic makeup could not be effectively treated for skin cancer until vemurafenib was developed in 2011. The same problem of genetic variability extends to many more diseases, including asthma, various types of allergies, cancer, and other genetic diseases.
Personalized medicine offers the best solution to this problem. Where medicine has traditionally had to use a one-size-fits-all approach, personalized medicine now allows doctors to tailor their diagnoses and treatments for each individual patient, taking his or her individual characteristics or biomarkers into consideration.
Why we cannot have personalized medicine without biorepositories
However, for personalized medicine to work, doctors must have easy access to a reliable and comprehensive biorepository—a biological storage facility which houses a wide range of biological samples. Such samples, or biospecimens, are typically taken from patients when they undergo surgery or a biopsy. They can include urine, blood, plasma, and tissue samples. These biospecimens must be stored under very specific conditions or they will go bad and become useless.
Biorepositories are the only places which have the necessary facilities and procedures for collecting, storing, and distributing biospecimens. In these places, strict protocols must be maintained to ensure that biological samples are not damaged or destroyed in the process of collection, storage, or retrieval. Researchers and doctors both rely heavily on biorepositories to provide them with high-quality samples that they need to advance personalized medicine and to treat patients.
Why we need well-maintained biorepositories
When Kristin Ardlie attempted to isolate the RNA of a set of placenta samples she had retrieved, she found that the sample had degraded because it had not been put into a −80 °C freezer immediately. As for live cells, which are crucial for research, it is necessary to store them at about -200 °C, a temperature that can only be achieved by the industrial grade freezers in biorepositories, using liquid nitrogen. Pacific BioStorage, for instance, uses LN2 to reach those temperatures in its biorepository facilities.
Without proper freezing, the chemical reactions in the cells continue to degrade the sample, rendering them useless. And without the biospecimens, personalized medicine is not possible because researchers and doctors rely heavily on the RNA, DNA, and protein analyses of biosamples to help them diagnose, classify, and treat diseases effectively.
According to a 2011 study conducted at the M.D. Anderson Cancer Center, in cancer treatment, finding the right biomarkers in patients has allowed doctors to give them specifically tailored treatment regimens that increased their response rate from 5 to 27%. This allowed many of these patients to avoid unnecessary side effects and saved them the expense of paying for drugs that would be of no use.
In another case, research conducted using biosamples led to a startling revelation. It was found that each year, over 10 million patients who were being prescribed with Plavix, a commonly used blood thinner that prevents clots, were not suitable for the drug because they lacked the enzymatic activity to activate the drug. Revelations such as these have the potential to spare patients the expense of useless drugs and allow them to gain access to the right ones.
Such advances, however, are not possible without the logistical aid of biorepositories. Collecting and maintaining biosamples under the right conditions is a complex task that involves more than just the act of sticking a petri dish into a freezer. A 2013 study by the Archives of Pathology and Laboratory Medicine outlined the following requirements for biorepositories:
· Business plan. A sound fee model for billing end users must be developed.
· Physical space. There must be space for further development of the biorepository as the demand for personalized medicine grows.
· Trained personnel. They are necessary for the smooth operation of the facility.
· Equipment. Computers, freezers, and tissue processing equipment are needed to preserve, store, and track biosamples.
· Information technology (IT). Samples have to be tracked and managed, and there must be an easy way for researchers and clinicians to match samples to their clinical records.
· Quality assurance. Operating procedures must be standardised and facilities should be accredited to ensure that they meet stringent regulatory requirements.
Personalized medicine has the potential to make our lives much better by shifting the focus away from reaction to prevention and by providing patients with more effective therapies and drugs. Its advancement is only limited by the availability of biorepositories. This is why biorepositories are so important. With the right logistical support, we should all see some improvements in the quality of patient care within a few years.