What DNA testing can reveal about us

DNA testing looks at the genetic fingerprint to, among other things, help identify a person’s predisposition to certain diseases or conditions. To date, there is still debate on the accuracy of this information, or whether it actually influences behaviour once the results are known.

Also known as genetic testing, DNA tests can identify traces of genetic diseases or disorders, it can confirm parental or sibling identity and ancestry, as well as being used in criminal investigations. 99.9% of two people’s DNA will be identical, so DNA testing involves an examination of the remaining 0.1% of genetic markers to find out the differences (or similarities) between people, such as genetic traits for disease 1.

Why are DNA tests carried out? 

DNA strand

Since its discovery by Friedrich Miescher in the 1800’s our understanding of DNA has continued to evolve, through the realisation in the 1940s that the hereditary information in DNA molecules are passed down through the generations of a family, to Watson & Crick’s discovery in the 1950s of the chemical composition of the DNA molecule as a 3-dimensional double helix polymer, and how it was possible for genetic instructions to be held inside cells, and passed down to future generations.

Today, genetic testing is available for over 2000 different conditions2 and there are several different types of DNA tests. These include pre-implantation genetic testing (carried out during in-vitro fertilisation, to determine if there are disease-carrying genes in the embryos), prenatal testing (including testing for Down’s Syndrome, which became safer in 2015 through medical advancements), or new-born screening. These tests look for early signs of diseases and disorders to raise awareness of any potential health risks that might impact a child’s development3.

Certain DNA tests are able to determine a person’s predisposition to hereditary diseases and disorders, and the most common forms are:

  • Diagnostic testing – identifying a genetic condition or disease that could in the future make a person ill
  • Predictive and pre-symptomatic genetic testing – identifying genetic variations that might increase a person’s chance of developing specific diseases
  • Carrier testing – identifying if a person’s DNA carries a genetic disease or disorder that they might pass onto their children, even if the individual shows no signs

DNA testing plays an important role in understanding a person's heritage. As well as giving proof to settle legal disputes surrounding issues such as inheritance and child support, DNA testing continues to inform scientists and medics with their research into complex diseases such as cancer. An ambitious project4, run by the Department of Health is planning to sequence 100,000 genomes (a person’s entire DNA code) from people suffering from cancers or rare genetic diseases, which might reveal information that will improve diagnosis and treatments.

Hesitations towards DNA testing

Many ethical and practical questions have been raised due to the nature of the information a DNA test might reveal. If results show that you are extremely likely to develop a serious illness, would that make you change your lifestyle? Should you inform other family members about your results and ask them to get tested? Do you reveal this information to your health insurance company? Some people can become anxious about the results of such a test, and drastically change their perception of the future. 

Others are also reluctant to do such a test because of the cost ­- relationship DNA tests are not free. In a recent BMI Healthcare poll we asked if people would be willing to pay for a DNA test that would assess their predisposition of developing a certain disease. The answers were:

  • 38% of respondents said they would be willing to pay for the test
  • 33% of people were against the idea, choosing to keep track of their health with regular check-ups
  • 29% were willing to pay if the cost was lower5.

Self-testing kits

The science of DNA testing has advanced enough that companies now exist to produce off the shelf direct-to-consumer test kits. These tests are usually fairly simple, and involve providing a saliva sample and filling out a questionnaire, posting the package and awaiting the results

DNA test Knowing that you or your relatives have a predisposition to a disease can be upsetting and daunting, but as medicine develops and changes in the provision of healthcare advance, DNA testing could provide essential insight to influence our lifestyle choices and behaviours . 

DNA testing is an investigation, not a definitive answer. It’s important to remember that DNA testing does not predict a definitive future, and does not confirm an inevitable outcome. It’s still a challenge for healthcare professionals to fully understand all results, and more so for the average person, but with the movement towards more personalised self-service healthcare, in a global market predicted to be worth £7.7bn by 2022*, DNA test kits seem to be here for the foreseeable future.

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Source
1https://www.genome.gov/19016904/faq-about-genetic-and-genomic-science/
2https://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=43
3http://www.gosh.nhs.uk/news/press-releases/2015-press-release-archive/great-ormond-street-hospital-launches-new-safer-more-accurate-test-down-s-syndrome
4https://www.genomicsengland.co.uk/the-100000-genomes-project/understanding-genomics/what-is-a-genome/

5BMI Healthcare Poll (Results as of Jan 2017)
6https://www.theguardian.com/science/2017/jul/23/what-i-learned-from-home-dna-test-kits-are-they-accurate-or-worthwhile

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