DNA and Disease Risks
There are a number of DNA tests available which claim to be able to tell your risk of developing named diseases. I have never taken any such test before but I was recently offered the opportunity to test with a company named Futura Genetics.
The company promotes its tests with five reasons why you should have your DNA tested. Many family historians have taken tests for family history purposes, but have not looked at health risks in their DNA. Futura Genetics’ five reasons for testing health risks are:
- There’s a high chance you have a predisposition for a disease
- Troubles might be hidden waiting to strike
- Only those who know the truth can make right decisions
- You want your kids to be healthy
- Because you can!
These seem fairly reasonable assertions. Everyone has a different approach to knowledge of possible ill health, but I agree with Futura that if I am aware of genetic risk I am better prepared to avoid future problems. I also like the fact that these kinds of tests are being more affordable and commercially available to all (or mostly all, depending where you live).
Like other companies that assess genetic risk, Futura Genetics looks at the SNPs (single-nucleotide polymorphisms, pronounced “snips”) that, as Futura explains, “are usually located in genes or near the genes, but sometimes also inside the long stretches of DNA where no genes have been found. If you were to compare your chromosomes with those of a random person, we would expect to find, on average, one SNP that differs out of every thousand DNA nucleotides. SNPs are the results of alterations or mistakes in DNA, usually called mutations. These mutations accumulate very gradually as DNA is passed on from parent to child, generation after generation. Because all cells contain two copies of each chromosome, you may have two identical or two different copies of each SNP. Either one of the copies is passed on to all of your children. Scientists all over the world are trying to understand which differences in our appearance, personality, or disease susceptibility comes from which SNPs. Many associations have already been found, but there are still many more to discover.”
This tests looks at the risk of the following conditions:
- Alzheimer’s Disease
- Atrial Fibrillation
- Basal Cell Carcinoma
- Bladder Cancer
- Breast Cancer
- Celiac Disease
- Colorectal Cancer
- Coronary Heart Disease
- Exfoliating Glaucoma
- Gastric Cancer
- Graves’ Disease
- Intracranial Aneurysm
- Lung Cancer
- Multiple Sclerosis
- Open Angle Glaucoma
- Peripheral Vascular Disease
- Prostate Cancer
- Rheumatoid Arthritis
- Type 1 Diabetes
- Type 2 Diabetes
- Venous Thromboembolism
I was sent the kit very quickly and a few days later a courier came to collect. Like many DNA kits, this involved spitting into a tube. I then waited several weeks for the results report to appear in my online account and even longer for the paper copy to arrive in the post.
As shown in the above screengrab of my report, my raised risks are for lung cancer, celiac disease, migraine and type 2 diabetes. Although the highest level of risk appears to be for type 2 diabetes, I found this surprising as this is not something I am aware in my family. Nevertheless, this is helpful to know and something to bear in mind when offered a health check. Anyone else with this genetic risk may be interested to know that the NHS has a free online type 2 diabetes self-assessment tool. On the other hand, as one of my great grandfathers suffered horribly from rheumatoid arthritis, it was a relief to discover I have 0.42 times lower than average risk of developing that condition.
Futura Genetics’ report presents the risks in managed terms. For example, although my celiac disease risk is raised, the report notes that, “only 25% of persons with risk types develop the disease.” It does not detail the research that has gone identifying the relevant SNPs or the factors involved. For example, certain lung cancer research has focused on identifying SNPs in smokers. If you are not a non-smoker that may not be relevant, but the report does not indicate either way. This contrasts with the service offered by Promothease, for example.
One benefit of the Futura Genetics report is that the risks are clearly identified and presented neatly in a report that can be taken to show a medical professional. In certain cases, these risks could help your doctor with easier diagnosis. Advice is also given for how best to protect yourself with the raised risk condition, such as in my case, by taking physical regular exercise and maintaining a well-balanced diet to help me avoid migraines.
The report contains a paragraph description of each condition. At the end of the report is the Scientific Data. Unfortunately, this is not personalised which means you cannot analyse the raw data for yourself. The list of genetic markers that were analysed is given, but which SNPs were found in your DNA is not reported.