A family has received full-genome sequencing for non-medical reasons for the first time from the company Illumina. The West family – parents and two children aged 14 and 17 – had their genomes sequenced in the hope that the information would benefit their health in terms of predicting disease risk and drug responses, and also contribute to research into medical genetics. Of note, the family only submitted one adult genome sequence to the GenBank public database, to protect their privacy; the teenage children may choose to submit their own genome sequences when they are adults (see press release).
Refuting concerns about full genome sequencing of minors, father John West – former CEO of genomic technology company Solexa, which was acquired by Illumina in 2007 – said: “A few years from now I think it will be ethically improper if you don’t have your children sequenced. What kind of parent are you if you don’t give your children a small amount of money to find out things that can help their health?” (see Times news report). The reported cost of sequencing was a total of US$200,000 / £130,000, but prices are predicted to fall rapidly in the next few years due to rapid developments in sequencing technologies.
The major concern about genetic analysis of minors for non-medical purposes – that is, for all purposes that do not involve a medical decision – is that there is a small possibility that information would be revealed that the child might later wish it had not known about. The most glaring example is non-paternity (discovering that a presumed father is not genetically their father – this being a surprisingly common phenomenon) but it might also be carrier status for a genetic disease, or genetic predisposition towards a common disease. Many experts believe that where genome sequencing does not provide immediate health benefits, the risks mean that it would be better to wait until adulthood before testing.
Alison Hall of the PHG Foundation commented: “Until the balance of benefits and risks are clearer, the starting point should be to approach with caution, and on a case-by-case basis. In this case, the family seem to have been aware of the potential risks involved.” As genomic sequencing becomes more accessible, there is clearly a need for prompt consideration of related issues, including the testing of minors. The PHG Foundation is therefore developing a major new programme of work to consider the implications of DNA sequencing for individuals and society. Staff are also currently involved with an expert group that is reviewing current UK professional guidance on the genetic testing of minors