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Microarray: Anomalies and Enigmas

Diagnostic molecular science is changing lives. It wasn’t that many years ago that doctors made the distinction between multi-system disorders like Noonan Syndrome and Williams Syndrome based on clinical features alone. It was a tricky task. Both disorders caused babies to be born with pulmonary stenosis and other vascular irregularities; both resulted in feeding difficulties and a range of cognitive and emotional differences. A flat upper lip suggested Williams; an IQ in the normal range suggested Noonan’s. The problem was that children with these and other disorders were often given the wrong diagnosis. How could doctors devise effective treatments if they couldn’t get at the core of what was wrong? Sure, there were checklists, but at the foundation was incomplete and sometimes faulty data.

Breakthroughs in Diagnostic Molecular Science

This problem was eased with the development of the FISH test. Target genes were identified for some microdeletion disorders. By using FISH technology, scientists could ‘see’ whether a person had two copies of a particular gene or whether one had been lost during meiosis. This allowed them to determine with much more accuracy which condition a person had. Once genes were targeted, it was possible to devise lab experiments to isolate the function of different genes – and to better treat those who had abnormalities at the gene level.

Later came the mapping of the human genome, and the development of the modern microarray. Scientists and doctors could now sample many genes across the genome, looking for deletions, duplications, and mutations. Some of the aberrations they found could be identified with the ever growing list of known genetic anomalies; others provided a blueprint for future research. The microarray has even allowed people with less typical gene deletions to be identified.

The microarray can benefit a range of people, not just those born with enigmatic conditions. It can also identify people who are at a risk for cancer… and help doctors come up with a treatment plan for those who already have it. That’s because the microarray can tell more than just whether genes have been lost or gained. It can also determine gene expression levels and identify mutations.

Careers in Genetic and Molecular Science

Who’s at the front line of this exciting new science? Genetic doctors and oncologists? Yes, sometimes, but they’re hardly the only heroes here. Diagnostic molecular scientists are often the ones who prepare and study the genetic samples and report the findings. Some diagnostic molecular scientists specialize in diagnostic genetics so that they can become adept at working with the microarray and other modern genetic tests.

Cytotechnologists and other medical laboratory technologists may also break into the molecular diagnostics field. The foundation is a bachelor’s degree. If, as a student, you’re enthusiastic about this branch of medical technology, you’ll want to seek out internships that place you in the desired setting.

Processing the samples and reporting the data that will give someone an accurate diagnosis… This can be a huge source of satisfaction. Some scientists, though, want to go beyond this and identify trends. This takes significant experience in the field; a master’s degree can be helpful as well.

There is also a need for scientists working at the PhD level. One of the tasks is to design new types of custom microarray. There is a place for scientists from different fields, including computational biologists and biostaticians.

Fascinated by advances in the field and how far they can be taken? There is more than one path, but you’ll want to begin with a very strong science background. If you have a bachelor’s degree in biology, chemistry, or a medical science field, you have a foundation. Resources include the Society for Molecular Pathology and the American Society for Clinical Pathology. Check them out to learn more.