The pros and cons of whole genomic sequencing

Recent research has found new opportunities for people to explore their genomes, raising the question of what’s the deciding factor for whole genome sequencing for personal genomic information?


No, this post isn’t about defining whole genome sequencing, but I will start with three fast facts:

  1. Genomics is the analysis of the structure and function of genomes, or the complete set of DNA within a cell.
  2. The first individual’s whole genome was sequenced in 2007
  3. The cost today of whole genomic sequencing is less than US$1,000


With the falling costs of sequencing technology, there is a shift from microarray-based genotyping to whole genome sequencing. Whole genome sequencing provides the most comprehensive collection of your entire genetic variation; essentially what makes us unique and similar. With a single test, your whole genetic code can be captured.

Genome-wide sequencing can empower you. The information you gain can lower health costs through influencing your long-term health and lifestyle. Perhaps you can find out adverse drug reactions meaning more targeted treatments, or your risk for stroke or diabetes. It may help you engage in prevention activities and change how you approach health, such as diet, exercise, lifestyle and health choices. But there are obvious ethical and privacy consequences to having this knowledge.

Surprisingly, this is not the issue. There is little point preventing personal genomic information from becoming available, it has happened. It’s time to make sure the information gained from whole genome sequencing is effectively communicated for informed decision-making, right from the start.


The pros and cons

Being able to explore your genome is a rapidly shifting possibility with research centres scaling up their sequencing power. In Sydney the Garvan Institute of Medical Research are available for large research settings and clinical diagnosis of people with monogenic disorders, with future possibilities for healthy people to have their genome sequenced.

 In June this year, baseline research from the HealthSeq project published in European Journal of Human Genetics found the main concern from whole genomic sequencing in their research was the psychological impact and concern for privacy of their results.

However, nearly the entire small group of 35 adult participants expressed a variety of motivators for their results from whole genome sequencing:

  • obtaining personal disease risk information
  • satisfying curiosity
  • contributing to research
  • self-exploration
  • interest in ancestry.


Testing for family planning

Whole genome sequencing can be used for PGD or prenatal diagnosis. Couples planning to start a family may use preconception whole genomic sequencing to determine their risk of carrying a baby with a hereditary condition. This means carrier screening could identify more mutations than panel screening and perhaps identify more couples at risk of bearing children affected by genetic conditions.

Genomic carrier screening raises questions about whether screening programs designed to decrease the incidence of genetic diseases will send a different message:

  • Will screening programs put pressure to accept testing, whether or not it is wanted?
  • Will certain disease communities feel targeted, such as the higher prevalence of Tay-Sachs disease in Ashkenazi Jewish populations?
  • If you have been diagnosed with a genetic disorder, would you test for others?

The reality is, having the main health and non-health motivators including knowledge (which can be empowering for reducing anxiety) and a sense of control over family-planning decisions, would the advice of being a carrier for a genetic condition really prevent you from starting a family?


So, how do you make a decision?

There is no denying making an informed decision about whole genome sequencing is based on communicating very complex information. You need to weight up the potential risks to the benefits of the technology and the limitations.

The discrepancy supports the need for genetic counselling and other educational measures if you’re considering having your genomes sequenced. Given the information on how the experience impacts those who have their genome sequenced, these tailored discussions can improve decision-making.



The Garvan Institute of Medical Research; The future of genomic medicine has arrived in Australia accessed 10 July 2015


Schneider, J.L. et al. “Is it worth knowing?” Focus group participants perceived utility of genomic preconception carrier screening Journal of Genetic Counseling 2015;9851


Bio-IT World HealthSeq study offers healthy New Yorkers whole genome sequencing accessed 12 July 2015


Sanderson, S.C. et al. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project European Journal of Human Genetics 2015; 1-7

About Dinethra Menon

Dinethra Menon is a freelance medical writer based in Sydney with over a decade of medical communications expertise. She has a Bachelor of Science from the University of Melbourne and a post graduate diploma in genetic counselling.

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