4 2GM Thursday November 11 2021 | the times
News
A world-first study in NHS patients has
proved that whole genome sequencing
can provide answers for people with
rare diseases, many of whom have
faced decades without a diagnosis.
The technique, essentially reading a
person’s full genetic code, could offer
huge benefits across the health service,
researchers say, with new diagnoses
translating immediately into new treat-
ments or investigations in many cases.
The cost of the test, done using a
patient blood sample, was “substantial-
ly less than £1,000 per genome”, Gen-
omics England said, with the amount
likely to fall rapidly over coming years.
Researchers analysed the genes of
4,660 people from 2,183 families, all
early participants in the 100,
Genomes Project, established in 2013
to sequence 100,000 whole genomes.
The study, led by Genomics England
and Queen Mary University of
London, found that whole-genome
sequencing was a better way to diag-
nose rare diseases than usual tests.
Researchers used novel software to
look for links between patients’ genetic
make-up and their symptoms. The
technique led to a new diagnosis for
25 per cent of patients. For some types
of disease, including sight or hearing
disorders, the rate was up to 55 per cent.
In at least 14 per cent of cases, the new
diagnoses were found in regions of thegenome that would be missed by other
conventional methods. And 25 per cent
of diagnoses were described as having
“immediate clinical utility” — prompt-
ing treatments or investigations that
may not have been considered other-
wise, or additional testing for relatives.
The study’s lead author, ProfessorA diet full of vegetables, fruit, beans and
tea and coffee may guard against de-
mentia, a study suggests.
The research followed about 1,
people in their seventies and looked at
their intake of foods that are believed to
reduce inflammation in the body.
The third of the volunteers who ate
the least of these foods were three times
more likely to develop dementia during
Healthy diet and a cuppa could help keep dementia at bay
the three years they were tracked by the
researchers compared with the third
who ate the most.
The diets of the healthier group
included, on average, about three serv-
ings each of fruit and vegetables each
day, together with four servings of
beans or other legumes each week and
11 cups of coffee or tea. A serving was
roughly a cupful.
“It’s not that people who exactly eat
these amounts are protected,” saidNikolaos Scarmeas of National and
Kapodistrian University of Athens,
who led the study. “It’s a gradual effect.
The more you are eating anti-infla-
mmatory food — the less prone you
appear to be to developing dementia.”
The research could not prove cause
and effect. It may be that people who
eat healthier foods also behave in other
ways that help lessen dementia risk.
Most experts agree that the best way
to protect against dementia is to lookafter your heart, by exercising and eat-
ing well. Many foods considered to be
anti-inflammatory would also be good
for cardiovascular health.
The study enrolled people in Greece
with an average age of 73 who had no
history of dementia when the research
began. Over the course of the study, 62
people, or 6 per cent, developed the
condition. The results were published
in Neurology, the medical journal of the
American Academy of Neurology.Rhys Blakely Science Correspondent
We remember Steve Holland flying a model Lancaster over a Spitfire and Hurricane in a Battle of Britain tribute at the Cotswold Radio Control Society base in Stroud
Husband’s expense
Stephen Ramsay, 40, the boss of a
lawn care business in Southend-
on-Sea, has been ordered to pay
£15,000 in damages for sacking
his wife Nicole, 33, a financial
consultant who was expecting
their fourth child, after she found
his receipts for “adult
entertainment”. She sued for
marriage discrimination at a
London employment tribunal.Walker wins award
A former Conservative MP who
walked 2,830 miles around the
UK, raising £4 million for war
veterans in Zimbabwe, has won
The Times/Sternberg Active Life
Award. Thomas Benyon, 79,
was presented with the award,
which celebrates the
contributions and achievements
made by people over the age of
70, at 11 Downing Street.Cats keep an ear out
Cats might appear to be aloof but
they follow our every move, a
study says. Research by Saho
Takagi, a psychologist at Kyoto
University, in the journal PLOS
One found that the pets were
surprised when voices came from
an unexpected place. He said cats
listened out for their owners,
“indicating an unidentified socio-
spatial cognitive ability”.Golfers given a hand
Golfers who play in a “reversed
stance” by switching hands when
holding a club are more likely to
hit the ball further and achieve
greater accuracy, according to
Oliver Runswick of King’s
College London. His study was
inspired by golfers such as Phil
Mickelson, whose golf stance is
the opposite of their handedness
in other activities, such as writing.Uber raises fares
Uber will raise its London prices
by 10 per cent today to lure back
drivers and tackle long waiting
times. The taxi-hailing app will
increase its base fare from £2.
to £2.75 while rates per minute
and per mile will also rise by
10 per cent. Journeys to airports
will be charged an extra 15 per
cent and the minimum fare will
increase from £5 to £5.50. The
number of passengers in London
has risen above levels before the
pandemic, while many drivers
have switched to deliveries.AAAAAAAA
CCCDDFG I
I I MNNNOO
OOOP R R T YSolve all five clues using each
letter underneath once only1 Enclosed area of paving (5)2 Goods for transit (5)3 Large fleet of warships (6)4 Gorge, ravine (6)5 Knowledgeable enthusiast (10)Quintagram® No 1157
Solutions MindGames in Times
Cryptic clues Page 10 of TimesPAUL NICHOLLSGenetic test that beats all others
in the battle against rare diseases
Damian Smedley of Queen Mary, said
the novel software and a collection of
detailed clinical data had been key to
solving the “needle in a haystack” chal-
lenge of finding the cause of a rare dis-
ease. A large proportion of the diagno-
ses would not have been found by a
conventional method. “This study
makes the case for healthcare systems
worldwide to adopt whole genome se-
quencing as the genetic test of choice
for rare disease patients,” he said.
Those benefiting include a ten-year-
old girl who had been admitted to inten-
sive care several times, with 307 hospi-
tal visits over seven years representing a
cost of £356,571. Genomic diagnosis led
to her receiving a curative bone marrow
transplant, at a cost of £70,000, and her
siblings could also be tested.
Another patient to be diagnosed was
a man in his sixties who had had two
kidney transplants over years of treat-
ment, and whose daughter had inherit-
ed the condition. A genomic diagnosis,
pinpointing the faulty gene meant doc-
tors could test his granddaughter and
be confident she was free of the disease,
ceasing regular costly check-ups.Kat Lay Health Editor Behind the story
T
here are
about three
million
people in the
UK living
with a rare disease,
80 per cent of which
will have a genetic
cause (Kat Lay
writes). Historically,
many of those
patients would never
receive a formal
diagnosis but whole
genome sequencing
offers an excitingopportunity to change
that, using a simple
blood sample.
Reading a full genetic
code allows scientists
to spot anomalies
wherever they occur,
not just in the limited
areas covered by
earlier types of
genetic test. Studies
like this mean that
scientists can look at
thousands of people
with similar
conditions together,spotting new patterns
even in genes that we
never knew caused
medical problems.
Whole genome
sequencing is already
available on the NHS.
Part of the motivation
for today’s publication
is to show other
health systems the
benefits it can offer.
The testing process is
simple, and samples
could be taken in a
GP surgery.