Our understanding of the human genome has improved exponentially over the past century. With the completion of the human genome project in 2003 humans have sequenced the entire molecule of life, deoxyribonucelic acid (DNA), estimating the presence of 20,500 genes and 1.42 million single-nucleotide-polymorphisms (SNP’s) (Sachidanandam, Ravi et al 2001). This of course has led to a much clearer understanding of our genes and with it, a deeper cognizance for the information stored within them. Because of this, we are now able to much more thoroughly interpret our own genetic information which may hold the key to the future door of human health. Genetic analysis can be used to indicate an individuals susceptibility to specific diseases by identifying certain SNP’s that are associated with a persons risk of developing that particular disease. Similarly a person can even become familiar with their bodies own capacity to metabolise certain drugs and learn how well they respond to them. People are also able to build a social network with long distance relatives through the analysis of the ethnic composition of ones genome. However concerns have been raised regarding the interpretation and use of personal genetic information by the general public. This article will discuss both positive and negative implications of the use of a genetic analysis service 23andMe, as an accessible health screening device for the general public.
Genetic analysis from 23andMe can indicate an estimated risk of disease according to the identification of mutation SNP’s and could be used effectively to encourage healthier behaviour patterns in the right minded individuals. This could lead to an individual taking preventative measures to reduce their disease risk (Milne et al 2000) and thus resulting in positive health improvements. However, such information can also be misinterpreted and misleading for some, creating panic and anticipation about a disease that may never occur. This could create a rush for unnecessary screening and testing in healthy asymptomatic people that may never develop disease especially with regards to those who test positive for BRCA mutation genes associated with breast cancer. Conversely in the case of Rita Rubin, she found out through genetic analysis 23andMe that she had a smaller chance of developing Crohns disease than the average person but yet had lived with the condition all her life (Nextavenue.org). Genetic testing could also lead an individual into a false sense of security promoting an indulgence in unhealthy behaviours that may actually encourage disease, even though they are not genetically susceptible to it (Chapman and Bilton 2004) . Some of the disease susceptibility included in the service are diseases for which there is no cure or effective treatment. A concern remains in the question of whether psychologically and emotionally unstable individuals will respond well to finding out they are at a high risk for developing a disease they can not manage or treat. Conversely a strong minded and proactive individual being made aware they have a small chance of developing a disease will most likely take preventative actions to minimise their risk and make positive lifestyle changes.
Positive implications also exist for the testing of genetic variations that indicate drug metabolism. For example patients that use drugs to prevent heart attacks or blood clotting may benefit from knowing how well they respond to a certain drug and how sensitive they are to it. This information of course could potentially save lives, but may have to be used, in the context of public health, under the guidance of all relevant qualified health care professionals including emotional counsellors (Allyse and Michie 2013).
Data from genetic analysis can be both useful and detrimental to a persons physical and psychological welfare, depending on the individual and their interpretation of the data. Although data from such an analysis can not be currently used to determine exhaustive and definitive susceptibility to disease, it can nonetheless serve as a platform for the progression of this type of technology so more accurate interpretations can be made from this type of data in the future. Also until the reliability of the data from genetic analysis improves and its interpretation can be given more accurately, it should serve as ‘information of interest’ for the public, rather than a tool to discover the fate of one’s health. It should be made explicit to anyone using genetic analysis that genetics are only one factor in disease risk and not the only factor. Genetic analysis could ensue more concern and worry for some than the significance and reliability of the data deserves credit for. It does, however, have the ability to prosper as a device used for public health screening and for personalised health improvement at an individual level.
Allyse, Megan, and Marsha Michie. (2013). ‘Not-So-Incidental Findings: The ACMG Recommendations On The Reporting Of Incidental Findings In Clinical Whole Genome And Whole Exome Sequencing’. Trends in Biotechnology 31.8 (2013): 439-441. Available from: http://www.nature.com/gim/journal/v15/n7/full/gim201373a.html
[15 March 2015]
Chapman, E, and Diana Bilton. (2004) ‘Patients’ Knowledge Of Cystic Fibrosis: Genetic Determinism And Implications For Treatment’. Journal of Genetic Counseling 13.5: 369-385. Available from: http://link.springer.com/article/10.1023%2FB%3AJOGC.0000044199.38694.6c#page-1 [15 March 2015]
MILNE, S et al (2000) ‘Prediction And Intervention In Health-Related Behavior: A Meta-Analytic Review Of Protection Motivation Theory’. J Appl Social Pyschol 30.1: 106-143. Available from: file:///C:/Users/User1/Downloads/JASP-PMTMeta.pdf [15 March 2015]
Nextavenue.org. (2013) ‘The Pros And Cons Of Genetic Testing’. N.p. Available from: http://www.nextavenue.org/article/2013-04/pros-and-cons-genetic-testing [15 March 2015]
Sachidanandam, Ravi et al. (2001). ‘A Map Of Human Genome Sequence Variation Containing 1.42 Million Single Nucleotide Polymorphisms’. Nature
409.6822.928-933. Available from:http://www.nature.com/nature/journal/v409/n6822/abs/409928a0.html [13 March 2015]