Genetic Testing: There’s More at Stake Than Just Our Ancestry Isabel Engel

Genetic Testing: There’s More at Stake Than Just Our Ancestry

Written By Isabel Engel Designed By Bianca Vama

Introduction

Imagine sequencing your genome from the comfort of your living room couch. What was once a far-off concept limited to science fi ction movies has now become a reality. With the mainstream commercialization of at-home genetic testing, people can better understand their DNA, genetic biomarkers, and ancestral history. Companies like 23andMe market their services as “real science, real data and genetic insights that can help make it easier for you to take action on your health”.1 But beyond fl ashy branding and consumer appeal, what is really at stake when it comes to at-home genetic testing? It’s time to take a look.

The Technology of Genetic Testing

As outlined by The Genetic Counseling Defi nition Task Force of the National Society of

Genetic Counselors (NSGC), genetic counseling is defi ned as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.”2 At-home genetic testing ranges in type, from Y-chromosome testing (designed to follow male ancestry) to mitochondrial DNA testing (that identifi es genetic variations through mitochondrial DNA) to single nucleotide polymorphism testing (used to determine ethnic backgrounds).3 Through human saliva, all at-home genetic tests aim to look at regions of human DNA attributed to specifi c traits. 23andMe, for example, uses the HumanOmniExpress BeadChip Kit by Illumina as a means of inputting genetic material and scanning for variants.

They describe the genotyping technology and personalized reports as information “based on well-established scientifi c and medical research.”4 Though the technology is relatively straightforward and offers the general public streamlined access to their own genetic information, not all within the science community are sold on this growing technology. While the technology elucidates genetic

The Concerns

American author and journalist Charles Seife of Scientifi c American warns that, despite positive, medically-oriented branding, 23andMe’s “Personal Genome Service isn’t primarily intended to be a medical device. It is a mechanism meant to be a front end for a massive information-gathering operation against an unwitting public.”5 While the public may not realize it, in collecting the data of millions of consumers, 23andMe becomes “the Google of personalized health care.”6 While some consumer data go to important genetic and medical research, it is also used in sales. Seife writes that “23andMe reserves the right to use your personal information— including your genome—to inform you about events and to try to sell you products and services.” Knowing about individuals’ specifi c genetic concerns may prompt insurance companies to target the individual with medicines or sponsored products. What’s more, if insurance companies get their hands on the data, they may be able to sell (or deny) coverage to users. Specifi cally, genetic testing may impact life insurance. Though the Genetic Information Nondiscrimination Act (GINA) ensures that employers and insurance providers cannot obtain access to genetic testing nor discriminate on the basis of genetic results, not all are protected by GINA (including those in the US military and Veterans Administration).7 GINA also does not protect life insurance, long-term care, or disability insurance – meaning individuals’ premiums may change if their insurance companies get hold of genetic testing information. Thus, 23andMe, a technology with a branded low “consumer barrier to entry” may ultimately raise medical expenses in the long run.8

Another concern for critics of genetic testing is the weight placed on genetic results. The National Society of Genetic Counselors emphasizes that the results of genetic testing should not be regarded in isolation. Rather, they should be considered alongside family history, personal education about genetics and disease, and medical counseling.9 In her WIRED article, Amit Katwala writes of the concerns with single nucleotide polymorphism technology – and its inability to be all-encompassing: “People may think they’re getting their entire genome sequenced, but that’s not usually the case for most of the cheaper products. Instead of crunching through all 30 million letters on your 23 pairs of chro mosomes, these tests look for a handful of common specifi c markers that vary between people, called single nucleotide polymorphisms (SNPs, pronounced ‘snips’). But one SNP on its own is not enough to have sweeping effects on what food you should be eating, or what wine you’ll like.”10

Individuals cannot extrapolate medical diagnoses or guidance from the limited results of genetic testing. Without additional medical consultation, the results of genetic testing can be misleading. Critics warn that commercialized genetic testing is a strong start to a more informed public, but should not be treated as an end-all-be-all medical solution not be used at the expense of consumer’s privacy.

Looking to the Future

All of this is not to say that at-home genetic testing should be outright abolished. It certainly allows for unprecedented mainstream access to genetic information. Regardless of socioeconomic status, geographic location, gender, or race, people can be armed with more information about their ancestral history and genetic variations. By removing cost barriers to genetic information, individuals can use genetic knowledge to consult medical professionals in hopes of leading healthier and longer lives. The testing, though, should be taken with a grain of salt. Technologies like 23andMe are not a catch-all solution. As critics suggest, American consumers should be cautious and informed before they willingly spit into a vial.

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