Getting Precise Answers with Genotyping

Microarray Data Management

The spotlight on precision medicine has grown brighter since the national Precision Medicine Initiative was introduced in 2016.  According to the National Institutes of Health (NIH), precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” In precision medicine, the treatment is tailored to enable the best outcome for the patient based on that person’s specific genetic makeup. Blood transfusions are an example of the most basic form of this kind of medicine– when giving a transfusion, the donor’s blood type is matched to the recipient’s blood type to reduce the risk of complications.

Genetic sequencing is typically viewed as the future of precision medicine (something as simple as a blood transfusion is passé). However, in instances where causes of diseases are already known, there is no need to create excessive amounts of sequencing data when testing samples.

Genotyping by arrays has been fueling research and clinical treatments since the early days of personalized medicine and will continue to do so, due to its stable and reproducible results. The forecast for the global DNA microarray market indicates a continued annual growth rate of over 15% over the next several years.

Precision Medicine at Work

Warfarin is a blood clot thinner used to help patients with blood clots and to prevent strokes. It can be a highly effective, but warfarin therapy can cause major, even fatal, bleeding. This poses a problem for physicians who want to help, not harm their patients. Basic clinical factors will influence a patient’s response to warfarin including: age, weight, sex, race, and medications. But there are additional factors that are not so obvious. Studies have found that two genes (Cyp2c9 and VkorC1) are responsible for the metabolism of warfarin, meaning the most effective dose varies between individuals. When a known genotype is a factor, using the patient’s genotype in conjunction with other demographic info (age, sex, race, etc.) can help to predict the optimal drug dose – basic precision medicine in action.

Using Microarray Technology for Precision Medicine

High-density genotyping arrays for precision medicine have reliable, reproducible results, with no loss of SNP markers from lot to lot. Improvements in both array technologies and wet lab efficiencies have resulted in faster turn-around times, which increase lab throughput.

As labs are working more efficiently, the method used to capture and manage data must also become more efficient. Paper lab notebooks and Excel spreadsheets do not provide standardized formats for recording research and they are inefficient for searching, querying and reporting.

Genotyping Array Data Management

The Applied Biosystems™ Axiom™ Genotyping Solution on Thermo Fisher™ Platform for Science™ software solves some of these data management challenges. The Axiom Genotyping Solution follows samples from accessioning to the results of the wash and scan run. It provides standardized data management and end-to-end sample tracking, and has a searchable archive for tracking the reliability and quality of processes. Automated data capture reduces transcription errors and saves time, while simultaneously allowing researchers to see where a sample is in the workflow and its status.