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Dr. Magryta: What about genetic testing?

Genetic testing is gaining in popularity in medical circles despite the inherent unknowns to a comprehensive genotyping for humans. Newborn screening is a current analysis of a newborn’s blood, looking for diseases that if discovered can be controlled by changing diet, adding hormones or medicines.

These tests are primarily based on metabolites of diseased metabolic pathways that give clues to genetic defects. The effects of these screening programs has been nothing less than life-saving for the children involved.

So what about genetic testing?

What is coming is far different. The future will be a comprehensive analysis of a child’s genome that will allow us to understand a child’s risk for disease as well as more functional issues like how he or she will metabolize, and thus handle, a medicine or herb.

How nice will it be to know that a child needs drug X and not drug Y because of a cassette of genes that decrease the function and benefit of drug Y.

The costs of a DNA analysis are dropping rapidly with companies like 23 and Me completing it for a few hundred dollars.

The rub is that we still don’t understand what most of these genes do from a clinical perspective. However, this will change as modern computing will allow large amounts of data to be analyzed, developing clinical patterns of disease that are related to genetic SNPs (single nucleotide polymorphisms).

There are some genetic disorders that can be found before they rear their ugly head. The balance point and the ethical dilemma that the medical community is still grappling with is:  how to help those people that find out they have a genetic disease that won’t be realized for many years, but is life threatening.

The most cited example is a disease called Huntington’s Disease that is neurologically devastating as one ages.

As I discuss with medical students, change is coming because technology is revolutionizing everything in medicine (mostly for the good — minus electronic medical records). I think that the results will be insanely beneficial as medicine evolves technologically.

Stay tuned for the razor’s edge of preventative medicine,

Dr. M

Dr. Chris Magryta is a physician at Salisbury Pediatric Associates. Contact him at newsletter@salisburypediatrics.com

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