Genetic testing at home with a DNA test kit is a new and exciting option. The results often include massive amounts of health and ancestry information, for better or worse. The pros and cons of genetic testing are outlined to help would-be customers make informed decisions.

Genetic testing with direct-to-consumer DNA kits can be incredibly exciting. They’re simple and cost-effective while providing fascinating insights into health and ancestry. The concept is still new, and in development, the options are many, and oversight is limited. Before embarking on a genetic journey, it is best to understand the strengths and weaknesses of this newly available technology.

The Positives

The benefits of genetic testing are plentiful and mostly obvious. Above all, it gives a snapshot of the genetics at large, providing insight and knowledge as a compass for future health decisions. Compared to tests administered by a doctor, it is considerably more cost-effective, especially when insurance doesn’t cover the diagnostics. The non-invasive exploration can even provide details on ancestry, as well as guiding new parents in critical medical decisions.


COST-EFFECTIVE
Under some circumstances, a DNA kit may even be covered by health insurance providers. Otherwise, it is a very cost-effective method to acquire useful health-related information. Especially for people with potentially inherited disease, it’s an ideal starting point in personalized health.
NON-INVASIVE
Direct-to-consumer DNA kits often only need a swab of the cheek or some other simple genetic material. Blood isn’t needed for these types of genetics tests due to the lack of a medical professional. For those afraid of needles, it’s an easy step towards being proactive about health.
INFORMED HEALTH DECISIONS
Genetic testing is a useful first step in determining lifestyle decisions, most importantly in those with targeted biomarkers of concern. Along with a complete family history, a home DNA kit can promote early intervention against preventable diseases. Further, it can ultimately provide peace of mind when negative, inherited predispositions have been avoided.
ANCESTRY PROFILES
Because the internet has made it much easier to search for personal histories and ancestry records. Without a starting point or any family history, the investigation is often much harder. Many DNA kits provide a profile of your heritage, sometimes revealing quite interesting results. Even more, some even incorporate ancestry into their service, with the potential to find distant relatives.
PARENTING TOOLS
While they’re no replacement for professional medical advice, home DNA kits can provide information to assist parents, both before and after birth. Partners interested in having children may discover useful hints about compatibility. After the children arrive, even long after the fact, some genetic tests at home can also reveal details about parenthood, serving as a de facto paternity test.
FURTHERING THE SCIENCE AND AWARENESS OF GENETIC DISEASE
DNA testing at home has opened the world of genetics to millions of people who would have otherwise been none the wiser. This provides two significant benefits to the actual science and understanding of human genetics. Many testing companies provide massive pools of meta-data to scientists and researchers. As a bonus, genetic diseases that were once mostly unknown are gaining wider attention.

The Negatives

Many of the downsides of DNA test kits can be largely avoided with planning and education. The details that this type of testing can reveal may be surprising or shocking for some. Adequate support and plans given certain outcomes are integral to positive outcomes. Even so, some aspects of DNA kits are still shrouded in uncertainty, especially regarding privacy.

EMOTIONAL STRESS
Genetic tests can reveal some unsettling, health-related details. Potentially inherited diseases can be confirmed, results may be inconclusive or complicated, and even false positives can cause anxiety. Given that the industry is still young, and the science is developing, some results can be uncertain or even inaccurate.
‘OPENING PANDORA’S BOX’
Some outcomes of genetic testing should not be ignored, even if ultimately benign. Targeted follow-ups, guided by medical professionals, may be required. Worst-case scenarios range from discovering conditions with no treatment or cure, to misinformed health choices if medical oversight is not sought.
POTENTIALLY IRRELEVANT INFORMATION
Most genetic science is undertaken in a specific group, like Caucasian women or diabetic men, to limit variance in the findings. Because of this, some genetic associations that are very strong in one group may be completely irrelevant in another. Further, some inherited risks may be overblown: for example, the well-known BRCA (BReast Cancer Associated) mutations are only found in 5-10% of breast cancer cases.
FAMILIAL COMPLICATIONS
Genetics are not individual; they are passed between generations. Therefore, details uncovered through a DNA test will inevitably affect blood-related family members. In the case of inherited disease, this may engender a sense of guilt for the transmitting party. This may also lead to familiar pressure on members that may be affected, but reticent to undertake testing.
DISAPPOINTMENT
Genetic testing at home is still a very new science. The results currently available may be little more than suggestions or minimal increases in risk. For those who are seeking to take firm actions in lifestyle and health, DNA kits are no substitute for tests guided by a medical professional. Especially those at known risk for certain inherited diseases, current direct-to-consumer tests may not be able to scan those specific mutations.
INSURANCE CHANGES
Most insurance companies require disclosure of known risks and genetic tests; this applies equally to the results from DNA test kits, which may appear on your medical record. Some jurisdictions are introducing laws that protect individuals from ‘genetic discrimination,’ like the 2008 Genetic Information Nondiscrimination Act in the United States. Regardless, there can be changes to disability, life, and long-term-care insurance plans.
PRIVACY CONCERNS
In most countries, there is little oversight or regulation regarding the direct-to-consumer DNA testing industry. The removal of a medical professional from the equation of genetic testing eliminates the professional responsibility for care, informed consent, and strict handling of patient records. As a result, customers are providing their most personal data, genetic code, to companies that may not always have the clients’ best interests at heart.

Do the Positives outweigh the Negatives when it comes to Genetic Testing?

Using a DNA testing kit at home will be an entirely different experience for every person. Above all, the best preparation to avoid surprises is to understand the strengths and limitations of genetic testing. Being ready to proceed down whatever road the tests open is necessary for positive outcomes.

Joel is a writer with a passion for the science of DNA and the power of its manipulation.

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