Clinical utility and evidence-based SNP selection for nutrigenetic testing

By Caela De Beer

15 June 2024

Helping your patient achieve their health goals with the best possible outcomes is a journey that a practitioner walks alongside and guides their patient through. It is part of your responsibility that the guidance you give provides the patient with actionable tools that they can use to achieve these goals.

The only way that you can know whether the tools you are providing are going to benefit your patient, is by taking a look at the science behind your suggestions.

When referring a patient to do a genetic test it is vital that test is founded upon sound science.

3X4 Genetics ensures that the report you receive is scientifically valid and has clinical utility to make the information beneficial and actionable for your patient, ultimately empowering them to achieve their goals.

Three processes 3X4 Genetics follows to ensure that every report is as scientifically validated and has clinical utility:

3X4 uses the ASCE model

  1. Analytical validity- Measurement of the accuracy of the genotyping.
  2. Scientific validity- Ensure the strength of evidence linking a genetic variant to a specific outcome.
  3. Clinical utility- Measuring the likelihood that the recommended advice or therapy will lead to a more beneficial outcome than what would be found without Nutrigenomic testing.
  4. Ethical, legal, and social implications that may arise in the context of using the test.
3X4 Pathway-based analysis

3X4 analyses Single-Nucleotide Polymorphisms (SNP’s) in a pathway-based fashion, a method which has been patented. This provides an opportunity for a more expansive view of genetic testing.  SNP’s are not looked at in isolation but are grouped into their relevant biochemical pathways which shows how a process is impacted overall.

Scoring of SNP’s

The DARWIN methodology of scoring a SNP is used to determine whether the polymorphism is suitable to go into the report. There are 7 steps that go into assessing a SNP, and it must score above a certain threshold to be included in the report.

  1. Is the literature supporting the evidence behind this SNP strong enough?
  2. What is the functional effect of the SNP (biochemistry)?
  3. What is the SNP’s role in the relevant pathway?
  4. What is the clinical impact of the SNP?
  5. What interventions influence the clinical impact (clinical utility)
  6. What are the biomarkers/measurables?
  7. Will this genetic variant influence your recommendations?

All this information gets put into an unsupervised classifier machine learning model which will classify the cumulative impact of all SNPs in a pathway.

3X4 Genetics is a science based, validated tool for practitioners to use with confidence and offers patients useful insights to help achieve optimal health.