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Genetic Testing: It's Complicated

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We readily use the term "genetic testing" in daily conversations. But we are dangerously close to oversimplifying a broad and multidimensional field of medical research. The fundamental challenge lies in how we translate complex, molecular technologies in a laboratory into actionable genetic information that you or your doctor find useful and upon which life decisions can be based. As the promise of personalized medicine attracts more and more attention in the medical profession, those hopes are being pinned on your DNA.

Technologies for genetic testing have been well developed and applied in academic and clinical research projects. In fact, the term "testing" is by far too generic to use in any research context because there are many ways to dig into someone's personal genetic/metabolic profile. In a research lab, a wide variety of techniques are available from full genome sequencing (3 billion base pair analysis) to simple diagnostic assays for single (solo; uno; one) base pair mutations (single nucleotide polymorphisms, SNPs). In between there are a variety of protein detection methodologies, gene expression measurements, mRNA (transcriptome) profiling, and biochemical metabolite (pathway) assays.

In the public realm, there are a variety of genetic testing companies operating commercial services, like 23andMe, FamilyTreeDNA, ConnectMyDNA, among others. The state of the personal genetic testing field is almost entirely dominated by companies like these that offer direct consumer assays for a pool of SNP sites (single nucleotide mutations) that are known to be indicative of some disease risks, or are known to be informative in segregating human populations (mapping genealogical or ancestral lineages).

Here's where the consumer disconnect begins: caveat emptor. Although, academic and clinical researchers are bombarding the general public with amazing technological discoveries in health and medicine (think Nobel prizes), there is a growing disconnect between public perception and research practice. Yes, researchers can sequence and compile a bacterial genome in just a fews days; but no, most commercial genetic "testing" companies do not do any direct DNA sequencing. Instead, they utilize SNP targeted assays.

Now these SNP assays are really good at doing what they do. These are powerful tools. But the information they reveal about a person represents a very small, infinitesimal fraction of that person's genetic information. We are somewhat casual about this very low-level of private, direct-to-consumer, genetic "testing" because this simple information is manageable. However, in the near future, genetic testing services will be offering more and more depth in actual DNA sequence information from an individual. We need to start shifting the public perspective away from a casual, almost touristic fascination with genetic testing to a more serious realization of the depth, power and necessity for privacy in handling personal DNA data.