Genetic Testing in the Hands of the Consumer - The Genomics Revolution


Published: 15 November 2016

As little as a decade ago, the concept of having your DNA (your genome) sequenced as a matter of routine probably seemed far-fetched.

Yet, fast-forward a few years and extraordinary advances in DNA sequencing technology, increased speed and precision, and a significant reduction in cost have opened the floodgates for direct-to-consumer personal DNA testing from the comfort of the home.

Gaining insight into one’s DNA code could satisfy curiosity as to ancestral origins, provide a general overview of genetic traits, resolve paternity or reduce concern over a life-time risk of certain diseases.

Marketed as a device that allows the customer to take control of their health, saliva or buccal swab tests can be purchased online from overseas-based commercial companies. The kits are simply posted out, and samples are collected and returned in the mail.

Rather than the whole DNA code of each individual being ‘read’, certain genetic sequences that have previously been identified to contain regions related to disease susceptibility are mapped. This approach delivers the individual a DNA ‘snapshot’ identifying genetic variants that occur in the population and can be used to calculate the relative risk of future disease.

Empowered by Knowledge

The potential benefits of ‘self’ genetic testing include:

  • Personalised medicine: Genomic information can be harnessed by doctors to determine drug metabolism, therefore revealing patient sensitivity to a particular medicine and the likelihood of its efficacy, before a prescription is made.
  • Lifestyle changes: It is not just genes that predict our future health, but also our environment. Modulating behaviours in response to less desirable genetic outcomes that increase susceptibility to diseases, such as cardiovascular disease or lung cancer, could increase exercise and reduce smoking, respectively. Increasing perception of disease risk in combination with prior knowledge of family history may strongly influence decision making around lifestyle choices; however, the relative impact of genetic testing over and above known family history is not clear.
  • Contribution to medical science : Consumer genetic testing companies are teaming up with pharmaceutical companies to use genetic data to inform medicine discovery programs. While this is undeniably fuelled by profit, the outcomes are broadly beneficial to medicine.

(Oh 2019)

consumer genetic testing

Too Much Information?

The potential pitfalls of ‘self’ genetic testing include:

  • Misinterpretation: Commercial genomic testing is not coupled with genetic counselling or follow-up as would occur in the clinic. The perceived impact of a genetic risk may differ greatly from reality. An undesirable result is not an absolute indication that the disease will develop or indeed its severity, and could place otherwise healthy people in a state of distress. The psychological impact is unknown and could lead to anxiety and stress, whether warranted or not.
  • Healthcare burden: An inability to interpret or a desire to follow-up results could increase the burden on healthcare and the potential for the ‘worried well’ to seek professional advice.
  • Data privacy: On multiple levels, the concern over data security is well-justified.

(NHMRC 2014)

Parents may choose to include their children in DNA assessment to trace family patterns; however, the ethical implications for unconsenting minors who have a ‘right-not-to-know’ is unwavering. Should an unexpected harmful mutation be identified, that child must bear that knowledge, which could affect not only their risk of a disease but also the possibility that their own children could inherit the faulty gene. Such considerations also extend to untested family members, such as siblings, who do not wish to obtain such information. This raises the ethical complication of whether a doctor has a clinical responsibility to inform that person or not.

Being in possession of genetic information could have legal ramifications relating to the provision of genetic information to health insurers (NHMRC 2014). The potential for misappropriation of this data to discriminate against an individual is a genuine concern.

Despite remarkable technological advances in our ability to examine our genes close-up, we are much further behind in regulating the use of this information and defusing the ethical minefield that self genomic testing introduces (NHMRC 2014). The medical and economic benefits of harnessing big genomic data are plain to see and will certainly be the future in the fight against disease. The conversation as to how an individual’s data is utilised for the good and how they are supported and protected is paramount.