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Judging genetic tests: lab and report quality
A genetic analysis is only as good as three things: the measurement in the lab, the science behind each gene and the way the report puts the result into context. Check who does the measuring and to which standards, what evidence stands behind the genes, whether finding and recommendation are kept apart and how the data are handled. Important: certification and accreditation are not the same – ask what exactly was assessed.
40 percent wrong: why lab quality is not a detail
In a good laboratory, determining gene variants is routine today. How much depends on the right lab becomes clear when you look at a different route: a US laboratory looked at 49 cases in which people wanted results from consumer genetic tests confirmed clinically. The outcome: 40% of the variants listed in the consumer tests’ raw data were false positives. And some variants that a third-party service had labeled “increased risk” were classified as benign by several clinical laboratories (Tandy-Connor et al., Genetics in Medicine 2018).
For your counseling, this means: a genetic analysis is like a scale. If it measures wrong, even the best dietary advice is useless. Before you work with a provider, it pays to take a close look – at the lab, at the science behind the genes and at the report.
In the end, your client sees only the report, not the measurement behind it. You are their quality filter. This article gives you the questions you need to fill that role well.
Three touchstones for every genetic analysis
A simple framework has proven useful for evaluating genetic tests: the ACCE model. It asks about analytic validity, clinical validity, clinical utility and ethical, legal and social issues (Sanderson et al., Genetics in Medicine 2005; Burke et al., American Journal of Epidemiology 2002). Translated into your practice:
| Touchstone | The question behind it | How you recognize it |
|---|---|---|
| Analytic validity | Does the lab measure the gene variant correctly and reliably? | a named lab, quality certificates, clear handling of samples and unclear results |
| Scientific validity | Is the variant really linked to the trait? | a disclosed selection rule, studies per gene, no claims without evidence |
| Utility | Does the result help the person make a decision? | concrete, actionable hints; honest labeling of conclusions |
| Ethics, law, data protection | Are consent, data access and boundaries properly handled? | clear privacy information, no disease interpretation without a physician |
Certified or accredited? A picture for the difference
Picture a restaurant kitchen. Certification checks whether the kitchen works to fixed processes: who buys, who checks, how mistakes get fixed? Accreditation goes further: it confirms that the kitchen can demonstrably prepare specific dishes properly. Both are valuable – but they are not the same.
| Credential | What it confirms | What it does not confirm |
|---|---|---|
| ISO 9001 (certification) | a working quality management system: processes are planned, monitored and continuously improved | technical competence for a specific laboratory examination |
| ISO 15189 (accreditation) | quality and competence of a medical laboratory for specific examinations, confirmed by a national accreditation body | examinations outside the accredited scope |
| Working “according to ISO 15189” | the lab aligns its processes with the standard | confirmation by an accreditation body |
| CLIA (USA) | US certification for clinical laboratories | the scientific validity of individual genes in the report |
| National license for medical genetic analyses | the lab may perform medical genetic analyses | that every analysis the provider offers is medical |
Our tip: ask to see certificates and read the scope. A logo on a website says little – the text on the certificate says it all.
Who actually measures? Lab, subcontractor, raw data
- Is the lab named? Reputable providers tell you where the sample is analyzed. If you only find a sales address, ask.
- How does the sample travel? Ask how the link between sample and person is secured and what happens if a result cannot be determined unambiguously.
- Does the sample kit fit the purpose? Ask which analyses the saliva kit is intended for. At Novogenia, the kit is available as a non-medical device for lifestyle analyses and as a medical device for medical analyses; more on the saliva sample kit.
- Be careful with raw-data services: Uploading raw data from consumer tests to an online tool combines two uncertainties – a measurement not designed for this interpretation, and an interpretation with no control over the measurement. The 40% false positives from the beginning come from exactly this scenario.
Which genes, which evidence?
Because there are no binding standards for nutrigenetics yet, an expert group has developed a framework to assess the scientific validity of a gene–diet claim and whether it is actionable (Grimaldi et al., Genes & Nutrition 2017). Until then, the provider’s selection rule is your most important guide.
At Novogenia, the three-study rule applies: a gene is only included in an analysis if at least three independent studies – by different researchers, in different population groups – show the same effect. How this works in detail is described in Explanation of the approach of science.
Ask every provider: what is your rule? Which studies stand behind this gene? And what happens to variants that are not sufficiently documented? Don’t be impressed by sheer volume: a report with hundreds of gene variants looks impressive but says nothing about how well each one is supported. Which genes are well supported in nutrition counseling is covered in The key genes for nutrition counseling.
Six features of a good report
- Finding and recommendation kept apart: The report shows what was measured and labels recommendations as logical conclusions – not as proven.
- Plain language with an honest note: Many reports, ours included, speak of “functioning” and “impaired” genes. This is a deliberate simplification; technically, these are gene variants (polymorphisms). A good report says so openly.
- No disease interpretation in a lifestyle report: Where national law requires it, medical analyses belong in medical hands.
- Clear presentation: The result is visible at a glance, for example through a color code, and is explained in everyday language.
- No false precision: No gene on its own yields a specific nutrient dose or a “perfect diet plan”.
- Limits named: The report explains that genes interact with diet, exercise and environment.
Data protection: your client entrusts you with their recipe book
DNA is the most personal recipe book a person owns – and it also contains pages that concern parents, siblings and children. The GDPR therefore counts genetic data among the special categories of personal data (Art. 9 GDPR). Before working with a provider, clarify:
- Where is the sample analyzed, and where are the data stored?
- Who sees the results – only the person, you as well, the provider or third parties?
- What has the person consented to, and can they withdraw consent?
- How long are sample and data kept, and how are they deleted?
- In corporate programs: does the employer get any insight into results?
And for you yourself: never pass on results without the person’s consent – not to relatives, and not to colleagues. The legal details are covered in Genetic data and the GDPR.
Red flags: when you should get suspicious
- Promises to heal: “Your gene profile prevents disease” or “cures”.
- One gene, one dose: “Because of gene X, you need exactly this much of nutrient Y.”
- The perfect plan: “Your DNA reveals the one right diet for you.”
- No lab, no sources: Neither the lab location nor studies on the genes are named.
- Vague credentials: Logos without a certificate, or “accredited” without naming the standard and scope.
- Disease risks without a physician: Medical genes are interpreted directly for consumers where the law requires a physician.
- Pressure instead of advice: Fear tactics, artificial deadlines, results presented as destiny.
Your provider check in six steps
Want to check a provider before recommending it to your clients? Here is how:
- Request credentials: Ask for the certificates and read the standard and scope.
- Ask about the lab: Where is the analysis done, who runs the lab, how does the sample travel?
- Spot-check the science: Ask for the studies behind two or three genes – for example LCT or MTHFR – and check whether they match the statements in the report.
- Read a sample report: Are finding and recommendation kept apart? Are limits named? Are promises to heal absent?
- Clarify data protection: Read the privacy information and consent form; agree in writing who sees which results.
- Test it yourself: Provide your own saliva sample and read your report through your clients’ eyes. What do you understand right away, and where do questions remain?
A reputable provider will gladly answer all these points – openly. That may be the best quality test of all.
Frequently asked questions
What is the difference between certified and accredited?
Why is Novogenia not accredited to ISO 15189?
Can I have raw data from a consumer test interpreted?
How many studies does a gene need to make it into a report?
Who sees my clients’ results?
Related: Quality assurance and certificates at Novogenia · Genetic data and the GDPR · How Novogenia selects genes
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Become a partner →Offer for nutrition professionalsNote: This guide is general information for professionals and does not replace medical or legal advice. The genetic traits determined in a genetic analysis are well documented (each gene included is backed by at least three independent studies); recommendations on nutrition, micronutrients and lifestyle derived from them are logical conclusions, not scientifically proven. Regulations can change; errors and changes excepted.
