Would you want to know the results of sequencing your new child’s entire genome? A huge step up from the existing blood screening, this is the question that was posed to new parents at Brigham and Women’s Hospital in Boston. Perhaps unsurprisingly, close to 83% of the 514 parents interviewed said they would be interested in the results. Unlike the limited (albeit vital) answers, the heel prick test currently gives us by screening for only 9 rare and serious conditions. Whole genome screening will give us a whole wealth of information. So much so that we don’t seem to know what do with it.
The obvious answer to this, of course, is that by using this method we can perform extremely thorough health checks on newborns. It could pick up any conditions that will need immediate treatment or indeed any preventative treatment in the future. But this is where the discussion becomes divided.
If the condition doesn’t immediately take hold in a life threatening manner there’s always time for a debate to creep in. For example, genes that are known to convey a higher chance of acquiring certain cancers would not immediately be reported under the rules set out in the BabySeq Project. This information surely has a permanent place on a medical record, regardless of whether the individual ‘wants’ to know or not.
Unfortunately all last hopes of a simple discussion on the matter go out the window when you remember who shares half their genes with the baby in question - Mummy and Daddy. Any information that comes to light as a result of sequencing the genome they collaborated on has a good chance of affecting them as well. For example, if the child was discovered to carry a mutation in a BRCA gene, their risk of breast and ovarian cancer is increased. Although this is unlikely to affect the child for a while, and could be omitted from an initial report, it may save the mother’s life to inform her of her own potential risk. Now we have to consider releasing the information that was previously deemed unnecessary for the child earlier than planned. Are we ethically obliged to provide this information to the parents if it could potentially save their lives? We should be.
Although, if it’s decided full disclosure is relevant to the parents interests it also needs to be decided exactly where that disclosure stops. Unless this information is protected there is the potential for it to be bought and sold in what would be considered extremely unethical circumstances. Having what is essentially your ‘lifetime health forecast’ available when buying life insurance or applying for a mortgage could result in ludicrous charges for those unlucky enough to possess certain risk genes. Privacy needs to be an absolute priority when managing the information contained within an individual’s genome sequence.
However, all of these points are minor when compared to the potential health benefits of having a comprehensive list of your existing conditions and risks available to your doctors. We should endeavour to know these things about ourselves, and that knowledge can only ever be a positive thing. Those who would prefer to remain ignorant are only fooling themselves. This project could not only provide efficient diagnosis and treatment for hundreds of conditions but could also kickstart the age of personalised medicine.
And now this is not as far off as we once thought. Advances in technology are making our futuristic dreams come true every day, with the cost of sequencing a human genome already down to just $1,000 (that’s about £650). In fact, 240 babies are already taking part in the first study on the effects of full genome sequencing. They will be monitored for a minimum of five years to study the implications of this information on the child and family. It is important to attempt to remain as altruistic as possible when coming to conclusions about this project. Those involved must ensure they are not led astray by money or power and focus only on the goal of improving health.
There have been concerns raised that this could be a gateway procedure to other ventures such as sequencing an unborn child’s genome or even modifying identified faulty genes in embryos, which, although more morally ambiguous, would at least still be for the purposes of improving health. As long as we don’t stray into the territory of aesthetic modifications this is ultimately less a question of “should we?” and more a question of “how far can we go?”.