The Best Genetic Tests: 7 Questions Before You Buy

Hundreds of genetic indicators, hundreds of thousands of genetic markers, references to scientific studies — on the pages of genetic tests it is easy to compare figures, but much harder to understand what they actually say about the quality of the result. The answer depends above all on the purpose of the test: searching for genetic variants linked to genetic diseases, assessing a response to medication, or analysing the polygenic features of health each call for different methods and different approaches to interpretation.

This article is about the category of genetic tests for health and lifestyle, to which Apixmed Prism belongs. We go through seven questions that will help you assess what exactly a test analyses, how its conclusions are formed, how clearly the results are presented and what you are paying for when you buy a genetic test.

For the differences between types of genetic tests, see the article How to choose a genetic test.

1. What Information Exactly Do You Want to Get?

Ask: does the test cover the area of health you are interested in — nutrition, sleep, physical activity or the genetic factors behind particular risks, for example — and which specific indicators fall under that direction.

A red flag: vague wording along the lines of “find out everything about your body” with no list of specific directions.

A transparent approach is signalled by a clear list of directions and indicators before you buy.

2. Does the Method Match the Question Being Asked?

Does the SNP (single-nucleotide polymorphism) analysis method cover the DNA variants needed to calculate the indicators you are promised, and is there quality control at the laboratory stage.

A large figure for “variants read” on its own, with no explanation of how the method matches the purpose of the test, says nothing. A greater number of SNPs on a microarray does not in itself guarantee a better result. What matters is how well the required genetic variants are covered, the suitability of the microarray for the relevant population and the method of the subsequent calculation (Nguyen et al., Sci. Rep., 2022).

A good report is not limited to a number, a percentile or a colour scale. It explains what exactly is being assessed, what the result is compared with, where the limits of such an assessment lie and what practical meaning it may have. The way polygenic estimates are presented has a substantial effect on how they are understood and on the psychological response to them (Wallingford et al., Genet. Med., 2023).

3. Can You Check What the Conclusions Are Based On?

Does the report cite specific GWAS (genome-wide association studies) under each indicator, and does it take into account the population the model was developed for — PRS models can transfer differently between population groups (Moreno-Grau et al., Hum. Genom., 2024).

Sources should be given for every indicator. This is especially important for indicators calculated through a PRS (polygenic risk score), where the conclusion sums up the combined contribution of many genetic variants (Slunecka et al., Hum. Genom., 2021).

4. Are the Results Explained in the Genetic Report?

The precise biological mechanism is not established for every genetic association, so demanding this of a report would be an overstatement. But a report should explain four things: what exactly is being assessed, what the result is compared with, what its limits are and what practical meaning it has.

A red flag is when a result carries none of this context and does not separate a genetic predisposition from a diagnosis and from the body’s actual state (Nolan et al., Clin. Genet., 2023).

A genetic report should contain an explanation of the measurement, a comparison, the limits and the practical meaning. This way of forming and presenting a result is associated with better interpretation, and therefore with better understanding and less anxiety, in studies of the communication of polygenic estimates (Wallingford et al., Genet. Med., 2023).

5. What Happens to Your Genetic Data After the Analysis?

Who owns the data, to whom it is passed for analysis (which laboratory performs the analysis, and therefore who has access to the data), whether you can obtain the raw file and whether it can be deleted.

The privacy policy should state clearly to whom the data is passed for processing, what exactly is kept and what is destroyed after the analysis, and whether the data can be deleted on request (Wan et al., Nat. Rev. Genet., 2022).

6. What Exactly Are You Paying For?

Is it clearly stated what the price includes — the laboratory analysis, a structured report, the raw file, a specialist’s consultation and so on — or are these elements and services paid for separately?

The red flag is not the price itself (high or low) but the absence of a clear list of what you get for it. A transparent approach, by contrast, is signalled by a clear list of what the price includes. This gives a clear understanding of what exactly you are paying for.

7. How Many Indicators Does the Test Cover, and Does That Match Your Goal?

The number of genetic markers (the DNA variants the laboratory actually reads) and the number of indicators (the interpreted characteristics in the report across different areas of health) are different things. They should not be confused. When comparing tests, it is worth assessing both the number of indicators and their relevance, as well as the level of evidence and the way they are interpreted. Broad coverage of indicators makes it possible to assess a full genetic profile only when a sound methodology stands behind each indicator.

How Does Apixmed Prism Answer These Questions?

Apixmed Prism offers genetic tests for different goals:

• the Prisma genetic test — to analyse a single direction;

• the Wellness genetic panel — to assess indicators across five areas of health;

• the Ultima genetic panel — for a comprehensive assessment of your genetic profile with a consultation from a geneticist.

Analysis method: genotyping on a microarray or whole-genome analysis, covering hundreds of thousands of genetic variants or the entire genome respectively; samples are examined by the partner laboratory, certified to ISO standards.

Where the conclusions come from: interpretation is carried out using algorithms built on peer-reviewed GWAS studies. Every indicator in the report is scientifically grounded.

Explanation of the result: each indicator comes with a percentile relative to a reference population, a comparison and a practical meaning; when indicators are elevated, the user is directed to a doctor.

The data belongs to the user. The sample is analysed by an accredited laboratory, certified to the ISO 27001 standard and compliant with GDPR and HIPAA requirements.

Cost: the price of every Apixmed Prism genetic test includes:

• a DNA sample collection kit,

• genetic testing with access to the raw data in VCF format,

• a personalised report based on your genetic data,

• an assessment of the genetic indicators within the chosen genetic test or panel,

• the option to expand the analysis later without collecting DNA again.

The Ultima genetic panel also includes:

• genetically grounded nutrition recommendations,

• a personal health-monitoring (check-up) plan,

• recommendations on nutraceuticals (supplements) tailored to your profile,

• a specialist’s consultation,

• an assessment of 555+ indicators, which is a real advantage, since it lets you assess not a single isolated direction but the interconnected features of the body.

There is no universal ranking of genetic tests. There are seven specific questions whose answers show whether a particular service can be trusted. Compare the Apixmed Prism genetic tests and panels against these same questions to find the option that fits your goal.

The results of a genetic test are not a diagnosis and not a substitute for a doctor’s consultation. An Apixmed Prism report provides genetic context that complements the findings of examinations and helps you make decisions together with your doctor.

Sources

1. Slunecka, J. L., van der Zee, M. D., Beck, J. J., Johnson, B. N., Finnicum, C. T., Pool, R., Hottenga, J.-J., de Geus, E. J. C., Ehli, E. A. (2021). Implementation and implications for polygenic risk scores in healthcare. Human Genomics, 15(1), 46. https://doi.org/10.1186/s40246-021-00339-y

2. Moreno-Grau, S. et al. (2024). Polygenic risk score portability for common diseases across genetically diverse populations. Human Genomics, 18(1), 93. https://doi.org/10.1186/s40246-024-00664-y

3. Nolan, E. et al. (2023). Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services. Clinical Genetics, 104(1), 3–21. https://doi.org/10.1111/cge.14332

4. Nguyen, D. T., Tran, T. T. H., Tran, M. H., Tran, K., Pham, D., Duong, N. T., Nguyen, Q., Vo, N. S. (2022). A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations. Scientific Reports, 12, 17556. https://doi.org/10.1038/s41598-022-22215-y

5. Wallingford, C. K., Kovilpillai, H., Jacobs, C., Turbitt, E., Primiero, C. A., Young, M.-A., Brockman, D. G., Soyer, H. P., McInerney-Leo, A. M., Yanes, T. (2023). Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review. Genetics in Medicine, 25(1), 1–11. https://doi.org/10.1016/j.gim.2022.09.008

6. Wan, Z., Hazel, J. W., Clayton, E. W., Vorobeychik, Y., Kantarcioglu, M., Malin, B. A. (2022). Sociotechnical safeguards for genomic data privacy. Nature Reviews Genetics, 23(7), 429–445. https://doi.org/10.1038/s41576-022-00455-y