THE FIRST individuals in history are having their genome sequenced by a personal genomics firm.
A genome is an organism’s entire string of DNA.
It contains the organism’s entire hereditary information.
Knome and the Beijing Genomics Institute (BGI) announced on January 22 that they have initiated the process to sequence the entire genomes of two private individuals. ”These individuals are pioneering an emerging science with us,” said Harvard genetics Professor George Church.
”Whole genome sequencing represents the future of personalised medicine and these sequenced genomes will nearly double the amount of whole-genome information available today.”
Genetic testing promises to tell people things ranging from their risks of developing ailments as diverse as heart disease, cancer and autism, to how much food and drink they can safely consume.
Vice president of international collaboration at BGI Zhuo Li was equally enthusiastic: “we expect to complete the sequencing process for these clients in the coming months.”
“We believe whole genome sequencing will ultimately drive advances in biomedical research and will enhance our understanding of the role of genetics in human function and disease,” Li added.
Knome’s whole-genome sequencing and analysis services are being marketed globally to private individuals.
Pricing starts at $350,000 and includes both sequencing and a comprehensive analysis from a team of leading geneticists, clinicians and bioinformaticians.
Vice president of sales and business development at Knome Ari Kiirikki said that, “both clients have chosen to remain anonymous”.
“As part of our service, we have developed a variety of processes and tools designed to keep their genomic identity private and secure. If they choose to release their identity or share their genetic code, it will be on their own terms.”
Senior scientist at the Cytogenetics and Genomics Department of the Cyprus Institute of Neurology and Genetics Dr. Philippos Patsalis told the Mail:
“At the Institute, we map certain parts of the genome which are related to single-gene disorders.
“For example, if a patient comes in who has a family history of a single-gene disorder, we map the relevant genome snippets.”
“We do not aim at whole genome sequencing,” Patsalis averred.
“At present, such a procedure is unavailable to 99.9 per cent of medical facilities in the world.
“More importantly, it currently serves no scientific purpose.”
The Economist has expressed fears about overselling.
Specifically, the accuracy of some tests now on the market is under question, as is their usefulness when the results are supplied direct to consumers, rather than with professional medical advice.
These concerns are not unwarranted, given the lucrative market which exists for those peddling genome sequencing.
To date, only three scientists have had their genomes sequenced, all as part of sponsored research efforts.
These include: Dr. James Watson (the man who discovered DNA), Dr. Craig Venter and an anonymous Chinese scientist.
As Venter notes in his autobiography, A life decoded my genome: my life: “the genome was the biggest prize in biology.”
THE HUMAN genome project (HGP) was launched in 1988.
Its objective was to map all human genes precisely to their respective positions on chromosomes and to identify their DNA sequences.
In A Devil’s Chaplain, Oxford University scientist and public intellectual Richard Dawkins notes that the “HGP implicitly plays down the differences between individuals”.
As the technology eventually gets cheaper, faster and more widespread, every individual will be able to afford their very own HGP.
The consequences are mind-boggling: “Population geneticists will have the ultimate data on human diversity. It will be possible to work out trees of cousinship linking any person in the world to any other person,” writes Dawkins.
Conservative bioethicists rightly warn us to beware of embracing new technologies whole-heartedly.
“Technological advances have in the past limited human freedom, instead of extending it,” writes US intellectual Francis Fukuyama in his Our Posthuman Future. In the past, “the development of agriculture led to emergence of hierarchical societies which enabled the existence of large-scale slavery.”
Fukuyama is right to say that “technological progress must be tempered against human ends.”
But technology waits for no one and regulation risks slowing progress.
Significantly, “genetic testing inevitably transfers power from doctors to laymen,” writes the Washington Post.
This transfer of power brings responsibility, of course – the responsibility of consumers, aided by the genetic testing companies themselves, to interpret their new knowledge sensibly.
Given the risks involved in such personal revelations, including job discrimination and health insurance woes, no one knows how many people will take that route.
But the ethical ramifications spill over the remit of the individual into that of his/her family: it is worth asking whether individuals have an obligation to kin who may not want their familial patterns put on display.
Patsalis said that, “Our policy has always been to look out for the best interests of our patients.”
“Any genome sequencing that is to be done must be within the range of what is ethically acceptable.
“We all have a human right to keep our genetic uniqueness to ourselves,” Patsalis added.
“If a patient wants to have his or her genome fully sequenced, then s/he must have a serious medical reason.”
It does not take long for the thought to manifest itself: perhaps this is information we are better off without.
‘Knowledge is power’ says the adage, power which if it is not used correctly, can be to the detriment of individuals and of communities.
Bioinformatics Lecturer at the University of Cyprus Vasilis Promponas came out in favour of genome sequencing
“My view is that genome sequencing is analogous to the discovery of fire or of nuclear power.”
“These discoveries have vastly improved the lives of individuals and communities, and the same can be done with genome sequencing.
“It does not follow that because we have arsonists, we should stop using fire.
“This is a matter which should become the subject of public debate,” he concluded.
The Head of the National Bioethics Committee Rena Petridou had no comment to make, saying that “we have not made any decision on the matter of genome sequencing.”
Instead, she advised to write an e-mail with specific questions which she could put to her committee so that they could formulate a position on the issue.
FACT BOX
There is no one human genome: there are five times as many differences between individuals’ DNA as was previously thought.
Older analyses suggested that humans’ genetic codes are, on average, 99.9 per cent identical, while the new estimate comes in at 99.5 per cent.
This is largely due to the infinitesimal combinations resulting from the genetic lottery which occurs in sexually reproducing species.
People have in their cells two versions of each of those 23 chromosomes, one from each parent – a “diploid” genome.
And increasingly scientists are finding that the difference between being healthy and being sick has a lot to do with how those genomes interact.
For example, a person may inherit a version of a gene that predisposes her to a disease from one parent, but from the other she may inherit a protective version.
