The 1000-euro genome

Governance of preventive genomics

RESEARCH QUESTION
What are the normative implications of whole genome sequencing and analysis (WGS-A) as a form of

  1. testing in the context of clinical care
  2. screening
  3. personal databanking? 

Duration: January 2010 - November 2013

SUMMARY
This project has focused on the normative implications of the introduction of whole genome sequencing (WGS) and analysis in clinical and preventive care. The researchers have discussed their research questions extensively with international experts in the field of human genetics during several workshops and meetings. 

The expectation is that WGS wille enter the context of clinical care in the next few years, as a cost-saving alternative to present gene-by-gene Sanger sequencing for diagnosis. In the context of screening, the clinical utility of WGS depends on the aims of screening and differs between preconception carrier testing, prenatal screening and neonatal screening. Furthermore, the idea that genomics information resulting from personal databanking will be used for personalised prevention and health care is still very much at the horizon. Many in the field also question the extent to which this will become useful, given the generally low predictive value of genomics information. 

Using the views of stakeholders on WGS and relevant normative frameworks (such as guidelines), the researchers have identified the most pressing lacunas, challenges and dilemmas at hand: 

  1. proportionality of whole genome testing: Given that in principle all genomic information about a person(patient) is available, criteria are needed to determine what information to use and why.
  2. informed consent for whole genome testing: the traditional approach to informed consent is untenable, as informing the patient beforehand on all possible outcomes is impossible and would lead to information overload rather than to helping the patient make a well-informed decision
  3. reporting unsolicited findings: which findings not related to the problem with which the patient presented should be reported back to the patient?
  4. recontacting: the greater part of the outcomes of whole genome testing comprises findings of which the clinical significance is as yet unclear. The question arises as to whether the provision of whole genome testing entails a duty to recontact previously tested persons if new knowledge sheds a new light on earlier findings.
  5. the special position of children in whole genome testing: as children cannot decide for themselves their parents will have to consent to whole genome testing whenever this is proposed in answer to a specific complaint. The question as to what extent the parents have the right to specify what unsolicited findings they want to be informed or not informed about?

With this study, the researchers have contributed to European recommendations on WGS by the Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics. The researchers emphasize however, that these recommendations should be regarded as provisional. both internationally and nationally there is a need for further ethical en legal debate and analysis, as part of a continuous multidisciplinary effort to further fine-tune guidance for whole genome testing in different contexts. The researchers advise further ethical exploration and empirical research on the identified dilemmas. Also, following this focus on the views of professionals, those of patients and citizens need also be explored. Finally, they find it time to bring the pros and cons of whole genome testing in the public debate.