Genetic Tests You Can Buy Directly

HEALTH · UNITED STATES

Genetic Tests You Can Buy Directly

What predictive and diagnostic tests do, false reassurance, and talking to a doctor

Genetic tests sold directly to consumers range from genuinely useful to actively misleading, and the difference is whether the test answers a question a clinician would have asked.

Predisposition is not diagnosis

Most consumer genetic tests report risk variants rather than a diagnosis. Carrying a variant associated with a condition does not mean you will develop it, and not carrying one does not mean you will not.

For coeliac disease specifically, the common genetic variants are carried by roughly a third of the population and most of those people never develop it. A negative result is useful for ruling the condition out; a positive result is not a diagnosis.

Diagnosis requires clinical testing

Coeliac disease is diagnosed through blood tests and, usually, a biopsy, and both require you to still be eating gluten. Cutting gluten out before testing is the most common reason a diagnosis is missed.

Do not change your diet on the basis of a genetic result. Speak to a doctor first.

Where these tests are genuinely useful

Ruling out a condition where a negative result has high predictive value, carrier screening before starting a family, and pharmacogenetic testing to guide certain medications.

Counselling matters

Results relating to serious inherited conditions have consequences for relatives who did not ask to know. Clinical genetic services include counselling before and after testing for exactly that reason.

Privacy

Genetic data is the most identifying information you own. Read what the company does with it, whether it is shared with research partners or insurers, and what happens if the company is sold.

Relationship and paternity testing

Tests bought for peace of mind are not accepted for legal purposes such as immigration, child maintenance or court proceedings. Those require a legally accredited chain-of-custody process with verified identity and supervised sampling.

Check which you are buying before paying, since the sample cannot be retrospectively made legal.

Before testing

Think about what you will do with each possible result, including the ones you are not expecting, and who else is affected. Support and counselling are available and are worth arranging in advance rather than afterwards.

Direct-to-consumer limits

Laboratories vary in accreditation and in how they validate results. Check which laboratory processes the sample, whether it is accredited, and whether a clinician reviews anything before it reaches you.

A result that changes what you would do medically should be confirmed through a clinical service rather than acted on alone.

Ancestry and health are different

Ancestry reports are entertainment. Health reports from the same sample vary considerably in quality and regulatory oversight.

Take any result to a doctor rather than acting on it alone.

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