Genetic testing has become considerably more accessible in recent years — both through clinical services and direct-to-consumer companies. It can reveal inherited risk for cancer, heart disease, pharmacogenomics (how you respond to certain medications) and rare genetic conditions.
But genetic results come with complexity: probabilities rather than certainties, implications for family members who haven't been tested, and sometimes answers that raise more questions than they resolve. This guide helps you understand what to expect before, during and after testing.
Types of genetic tests
- Diagnostic testing — confirms or rules out a specific genetic condition when symptoms are present
- Predictive testing — identifies risk variants before symptoms develop (e.g. BRCA1/2 for breast and ovarian cancer, APOE for Alzheimer's risk)
- Carrier testing — checks whether you carry a gene variant that could be passed to children but doesn't affect you personally
- Pharmacogenomic testing — determines how you metabolise specific medications (e.g. codeine, SSRIs, clopidogrel)
- Prenatal and preimplantation testing — screens embryos or fetuses during pregnancy or IVF
- Ancestry and consumer tests — primarily trace ancestry; limited clinical validity
Before you test: genetic counselling
For any clinical genetic test — particularly predictive testing for serious conditions — genetic counselling before and after the result is strongly recommended and in many services required. A genetic counsellor explains what the test can and cannot tell you, discusses what you would do with a positive result, and explores the family implications.
This is not something to skip. Learning you carry a BRCA2 variant, for example, has implications not only for you but for your parents, siblings and children — and knowing in advance what you'll do with that information is genuinely important.
Interpreting results
Genetic results are reported in several ways: pathogenic (likely to cause a condition), likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign. A VUS result is common and often frustrating — it means a variant was found but its clinical significance is unclear. VUS classifications can change as more data accumulates.
A 'positive' result for a cancer risk gene does not mean you will develop cancer — it means your risk is elevated compared to the general population. Risk reduction strategies (increased screening, prophylactic surgery) exist for many high-risk variants.
Storing genetic results safely
Genetic test results are lifelong documents. The variant found doesn't change, but its interpretation may as science advances. Store the full laboratory report securely — not just the summary letter — so future providers can see the exact variant identified.
In Looms, genetic reports can be uploaded like any other medical document, tagged as 'Genetics' and kept alongside the rest of your record. Consider adding a personal note with the date of the result and the actions you and your doctor agreed on. For a broader look at which health records are worth keeping for life, see our guide to health records you should keep, and for the rights you have to request records from providers, our patient rights guide covers the rules in the UAE and beyond.
Privacy considerations
Genetic information is uniquely sensitive — it is immutable and identifies not just you but your biological relatives. Be thoughtful about which services have access to your raw genetic data, and check the data retention and sharing policies of any consumer testing company before submitting a sample.