Testing one’s genes can be done in 2 ways nowadays:
1. Tests ordered by your doctor or hospital
2. Services ordered directly by you to know more about yourself, called Direct-to-Consumer (DTC) services.
The former are tests ordered by your doctor or hospital for specific medical purposes where a particular gene or a set of genes is checked e.g. for cancer susceptibility or to test the effectiveness of a treatment.
Companies like Athena Diagnostics and Myriad Genetics, etc. can run some tests to look for certain mutations. Think of them like like diagnostic lab tests, only that they use genes for analysis (derived from blood or saliva).
Many specialized labs and research groups also run tests and they may not be always commercially available.
These companies usually charge a lot for their tests for a huge profit, because what they look for is not openly known. In many cases, the actual check for a mutation is cheap and though costs are coming down every day, companies can charge a lot for their Intellectual Property. The knowledge of how different genes map to a condition is called “Mapping”.
Direct to Consumer services consist of an array of tests that are not all medically oriented and along with Health Conditions and Drugs, they include things like traits (baldness, curly hair, etc.) and family origins (also geographical location of haplotypes) , etc.
New tests are added as more genes are studied and since most companies have your DNA sample, they can run tests at their end (maybe for a fee) without requiring any consumer action and update the results since they are online.
DTC is becoming popular in the US now and also raises some privacy and ethic’s issues.
These tests don’t require a blood-draw and are non-invasive and the company usually works off a swab or a saliva sample. The tests are cheap and easy to order and very tempting and people also do not realize they could cause one more stress and anxiety and they have ramifications that also involve family members and so, a genetic counselor should be consulted to understand all that is involved.
Having said that, they are also valuable in knowing more about oneself and conceptually preventing diseases through early interventions and lifestyle changes.
Notice, I said conceptually because we cannot have absolute predictions yet.
Most tests are based on the presence of certain genes or mutations based on studies done by researchers.
Also, genes are switched on by environmental and various conditions, so just having a certain gene may not lead to developing a condition.
The tests are expressed as a probability and not an absolute and we have to still understand the complete picture and we are only beginning to know what all is involved.
Also, there is not enough data amongst various population groups.
This quickly becomes a chicken and egg problem for gathering patient data, but that has not deterred companies from providing these services.
Here’s a sample screenshot of the front-runner 23 and Me, that shows what it provides:
Some third-party companies also provide analysis and tools that accept genomic data from a user (got from the DTC companies) and then provide some insights into it. I’ll talk more about this in the future.
DTC services are still a personal choice and are paid out of pocket by the consumer. Medical Insurance in the US still does not cover these but that could change as these DTC tests could be used by your doctor and medical professionals.