The future of medicine has arrived

For the first time, the genetic cause of a disease has been revealed by sequencing the patient's genome. The consequences, says Jeremy Laurance, could be enormous

Doctors hailed a landmark in the advance of personalised medicine yesterday with the first case in which the sequencing of a patient's complete genome revealed the genetic cause of his disease.

The advance demonstrates for the first time that the technology of gene sequencing, touted as the future of medicine for a decade, is robust enough to yield clinically significant results. Fewer than 10 people in the world have had their personal genomes completed, and most of these were done as an intellectual exercise.

But the technology may herald a new era of medical neurosis rather than a new dawn of better health. Learning in advance of the risk of suffering diseases in the future might help prevent their occurrence, but would also lead to a lifetime spent worrying about them.

The latest advance solves a 20-year puzzle for the patient, James Lupski, who as vice chairman of molecular and human genetics at Baylor College of Medicine in Houston, Texas, also led the research.

Dr Lupski inherited a rare condition which affects the nerves in the hands and feet called Charcot-Marie-Tooth syndrome from his parents. In 1991 he and his team identified the first genetic mutation that gave rise to the disease and 40 more genes have since been implicated by other researchers. But none of them accounted for the disorder that affects Dr Lupski himself and some of his siblings.

To help Dr Lupski in his quest, Richard Gibbs, director of the Human Genome Sequencing Centre, offered to sequence all of his genome. The researchers found two "compelling" mutations in the gene SH3TC2, among those known to be implicated in the syndrome, which caused the condition in him. The results are published in the New England Journal of Medicine (NEJM).

Dr Lupski said he had known he had a genetic disease for 40 years, but now he knew the gene at fault. "This is the first time we have tried to identify a disease gene in this way. Currently we only know the function of 5 to 10 per cent of the approximately 25,000 genes in our genome that it takes to make a human being. What this paper tells us is that the data are robust enough that we can start to use it to interpret clinical information in the context of the genome sequence," he said.

Unlocking the secrets of the genetic code for individuals to reveal their risk of developing specific diseases has been limited by the high cost. But it is falling dramatically. Decoding the complete genome of Nobel prize winner James Watson, joint discoverer of the double helix structure of DNA, in 2008, cost $1 million (£600,000). Dr Lupski's genome was sequenced for $50,000 (£30,000). An editorial in the NEJM says the "spectacular" reductions in cost will continue, as a result of competition and innovation, and will be "at most one tenth of the current cost" within two years. Even today, using a different technique that shrinks the target for sequencing (covering 1 per cent of the genome but which still accounts for 90 per cent of all mutations with large effects), the cost of decoding Dr Lupski's genome could have been achieved for $4,000 (£2,800). "It is increasingly clear that the cost is fast approaching a threshold at which DNA sequencing will become a routine part of the diagnostic armamentarium," the journal says.

However, the new developments raise a host of ethical questions. Among them is how information about genetic risks of disease should be presented to individuals, and what the implications may be for insurance and employment.

Women affected by the genes BRCA1 and 2, which are known to raise the lifetime risk of breast cancer to 80 per cent, can protect themselves by having regular mammograms or by opting for prophylactic surgery to remove the breasts.

But for Huntingdon's disease, an inherited progressive neurodegenerative disorder, there is no cure. Alerting people affected by the gene that causes the disease means they live for longer under its cloud. While some may prefer to know, others may want to live in ignorance, until their symptoms develop. Couples trying for a child may wish to know if the foetus is affected so they can opt for abortion if they choose.

The Association of British Insurers agreed a moratorium on the use of genetic test results in 2001, which has twice been extended and is now due to expire in 2014.

The moratorium allows consumers to obtain insurance for themselves and their families without having to disclose adverse results of predictive genetic tests that might indicate a risk of serious disease in the future.

Single gene mutations that cause more than 2,000 mostly rare diseases have been identified so far. Mutations in multiple genes that increase the risk of common diseases are also being discovered.

Arts & Entertainment
tvGrace Dent on TV
Voices
Actor Zac Efron
voicesTopless men? It's as bad as Page 3, says Howard Jacobson
Voices
For the Love of God (2007) The diamond-encrusted skull that divided the art world failed to sell for
its $100m asking price. It was eventually bought by a consortium
which included the artist himself.
voicesYou can shove it, Mr Webb – I'll be having fun until the day I die, says Janet Street-Porter
Life & Style
The exterior of a central London Angus Steakhouse
food + drink
VIDEO
Sport
Mercedes driver Lewis Hamilton of Britain drives in the rain during the qualifying session of the Chinese Formula One Grand Prix in Shanghai
sport
Extras
indybestFake it with 10 best self-tanners
Arts & Entertainment
Madonna in her music video for 'Like A Virgin'
music... and other misheard song lyrics
News
Much of the colleges’ land is off-limits to locals in Cambridge, with tight security
educationAnd has the Cambridge I knew turned its back on me?
Sport
Steven Gerrard had to be talked into adopting a deeper role by his manager, Brendan Rodgers
sportThe city’s fight for justice after Hillsborough is embodied in Steven Gerrard, who's poised to lead his club to a remarkable triumph
News
peopleOrlando Bloom the pin-up hero is making a fresh start
News
Who makes you happy?
happy listSend your nominations now for the Independent on Sunday Happy List
Arts & Entertainment
filmLife for Leslie Mann's can be challenging sometimes
Voices
For music lovers: John Cusack with his vinyl collection in 'High Fidelity'
voices...but don't forget rest of the year
News
The energy drink MosKa was banned for containing a heavy dose of the popular erectile dysfunction Levitra
news
Environment
People are buying increasing numbers of plants such as lavender to aid the insects
environment
Independent
Travel Shop
the manor
Up to 70% off luxury travel
on city breaks Find out more
santorini
Up to 70% off luxury travel
on chic beach resorts Find out more
sardina foodie
Up to 70% off luxury travel
on country retreats Find out more
Have you tried new the Independent Digital Edition iPad app?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Apprentice IT Technician

£150.00 per week: QA Apprenticeships: This company is a company that specializ...

1st Line Technical Service Desk Analyst IT Apprentice

£153.75 per week: QA Apprenticeships: This company is an innovative outsourcin...

1st Line Helpdesk Engineer Apprentice

£150.00 per week: QA Apprenticeships: This company has been providing on site ...

Sales Associate Apprentice

£150.00 per week: QA Apprenticeships: We've been supplying best of breed peopl...

Day In a Page

How I brokered a peace deal with Robert Mugabe: Roy Agyemang reveals the delicate diplomacy needed to get Zimbabwe’s President to sit down with the BBC

How I brokered a peace deal with Robert Mugabe

Roy Agyemang reveals the delicate diplomacy needed to get Zimbabwe’s President to sit down with the BBC
Video of British Muslims dancing to Pharrell Williams's hit Happy attacked as 'sinful'

British Muslims's Happy video attacked as 'sinful'

The four-minute clip by Honesty Policy has had more than 300,000 hits on YouTube
Church of England-raised Michael Williams describes the unexpected joys in learning about his family's Jewish faith

Michael Williams: Do as I do, not as I pray

Church of England-raised Williams describes the unexpected joys in learning about his family's Jewish faith
A History of the First World War in 100 moments: A visit to the Front Line by the Prime Minister's wife

A History of the First World War in 100 moments

A visit to the Front Line by the Prime Minister's wife
Comedian Jenny Collier: 'Sexism I experienced on stand-up circuit should be extinct'

Jenny Collier: 'Sexism on stand-up circuit should be extinct'

The comedian's appearance at a show on the eve of International Women's Day was cancelled because they had "too many women" on the bill
Cannes Film Festival: Ken Loach and Mike Leigh to fight it out for the Palme d'Or

Cannes Film Festival

Ken Loach and Mike Leigh to fight it out for the Palme d'Or
The concept album makes surprise top ten return with neolithic opus from Jethro Tull's Ian Anderson

The concept album makes surprise top ten return

Neolithic opus from Jethro Tull's Ian Anderson is unexpected success
Lichen is the surprise new ingredient on fine-dining menus, thanks to our love of Scandinavian and Indian cuisines

Lichen is surprise new ingredient on fine-dining menus

Emily Jupp discovers how it can give a unique, smoky flavour to our cooking
10 best baking books

10 best baking books

Planning a spot of baking this bank holiday weekend? From old favourites to new releases, here’s ten cookbooks for you
Jury still out on Manchester City boss Manuel Pellegrini

Jury still out on Pellegrini

Draw with Sunderland raises questions over Manchester City manager's ability to motivate and unify his players
Ben Stokes: 'Punching lockers isn't way forward'

Ben Stokes: 'Punching lockers isn't way forward'

The all-rounder has been hailed as future star after Ashes debut but incident in Caribbean added to doubts about discipline. Jon Culley meets a man looking to control his emotions
Mark Johnston: First £1 million jackpot spurs him on

Mark Johnston: First £1 million jackpot spurs him on

The most prize money ever at an All-Weather race day is up for grabs at Lingfield on Friday, and the record-breaking trainer tells Jon Freeman how times have changed
Ricky Gervais: 'People are waiting for me to fail. If you think it's awful, then just don't watch it'

Ricky Gervais: 'People are waiting for me to fail'

As the second series of his divisive sitcom 'Derek' hits screens, the comedian tells James Rampton why he'll never bow to the critics who habitually circle his work
Mad Men series 7, TV review: The suits are still sharp, but Don Draper has lost his edge

Mad Men returns for a final fling

The suits are still sharp, but Don Draper has lost his edge
Google finds a lift into space will never get off the ground as there is no material strong enough for a cable from Earth into orbit

Google finds a lift into space will never get off the ground

Technology giant’s scientists say there is no material strong enough for a cable from Earth into orbit