You should spend about 20 minutes on Questions 1-13, which are based on Reading Passage 1 below.
[A]Soon after the Californian twins were born, their parents grew concerned: the children were developing slowly and had floppy muscle tone. A brain scan indicated that the boy might have cerebral palsy, but doctors were puzzled over his sister’s tremor and seizures. Batteries of tests failed to confirm diagnoses in either child, or treatment when the children were five with the drug-dopa — used for people with Parkinson’s disease — helped only for a while.
[B]It was only in 2010, when the twins reached the age of 14, that whole-genome sequencing ended their diagnostic odyssey. It identified a pair of mutations in a gene that encodes the enzyme sepiapterin reductase, which is involved in production of the neurotransmitters dopamine and serotonin. Doctors modified the treatment to include serotonin; the boy’s mobility improved, and the girl was no longer plagued by sudden, breath-stealing spasms.
[C]Stories such as this one fuel ambitions to diagnose more quickly and accurately using genomic medicine. Indeed, tests that can probe certain disease-associated genes are increasingly becoming a diagnostic option. But such genetic tests often fail to give a diagnosis because they are too focused on a selection of known genes on one section of the genome. In cases like that of the twins, researchers or clinicians must go further and sample a person’s whole genetic sequence to find the disease-causing genes. Currently this is done only in rare cases — but a number of large-scale initiatives are poised to bring whole-genome analysis into routine medical care.
[D]The United Kingdom has taken a giant leap into genomic medicine with the 100,000 Genomes Project, which was launched in 2012 and has been personally backed by Prime Minister David Cameron. As part of the £300-million (US$467-million) initiative, 100,000 genomes from National Health Service (NHS) patients with cancer, rare disorders and infectious diseases will be sequenced by 2017. The project’s aims are to gain scientific insight by linking the disorders with precise genetic signatures; to obtain better diagnoses; to tailor treatments to individual patients; and, ultimately, to spur the development of a UK genomics industry.
“The goal is to make whole genomes part of regular NHS health records.”
[E]The state-funded, centralized UK health-care system is ideal for such population-based approaches in genomic medicine, says John Bell, who is a medical researcher at the University of Oxford, UK, and is also on the board of Genomics England, the NHS-owned company set up to run the project. The NHS already holds extensive clinical information on individuals, and pairing this with detailed genomic data will enable powerful insights into the links between medicine and genetics. Evidence that whole-genome interpretation can help in a wide range of disorders is mounting, and in the long term, Bell says, the goal is to make whole genomes part of regular NHS health records.
[F]But before that vision can be realized, there are several hurdles that the 100,000 Genomes Project must overcome. Aside from the logistical task of extracting and sequencing DNA from thousands of individuals, there is the problem of identifying which genome variations cause disease and which are harmless — a daunting, data-heavy and time-consuming process that will require a slew of specialized companies with dedicated software.
Considerable cohort
[G]Iceland was the first to launch a large-scale genomic analysis of its population. Many nations have followed suit with the explicit goal of linking health care and genomics. In the United States, the Precision Medicine Initiative plans to sequence the genomes of one million volunteers, and the Million Veteran Program is gearing up to do likewise with US military veterans. Similar projects are under way in Canada, Australia, Japan, South Korea, Singapore, Thailand, Kuwait, Qatar, Israel, Belgium, Luxembourg and Estonia.
[H]But the 100,000 Genomes Project is the venture gaining the most steam: it has already enrolled 3,500 people with rare diseases and 2,000 individuals with cancer, and will involve roughly 75,000 people altogether (see ‘The clinical genome’). People with rare diseases and their relatives will make up 50,000 of the final figure; 80% of rare diseases are inherited, so the genome of the affected person (usually a child) will be sequenced along with the genomes of two of their closest blood relatives. The remaining group of 25,000 will be composed of people with cancer, who will have their genome sequenced twice (the tumour DNA will be compared with that from a patient’s normal cells), giving the grand total of 100,000 genome sequences.
[I]The hope is that participants will benefit from clinical insights into their condition. But their genomes will also contribute knowledge of value to the entire patient community. One person’s prostate-cancer genome, for example, might reveal specific genetic patterns that a physician can compare against the Genomics England database. The physician can then find other people with similar patterns and learn which drugs and procedures worked best for them.
Questions 1-5
Choose the correct letter A, B, or C.
- What was the concern of the parents of the two kids?
A. The children had floppy disc.
B.The children were suffering from cerebral palsy.
C.The children had Parkinson’s disease.
2.What changes were observed in the girl at the age of 14?
A. She was showing hormone changes.
B.The girl was not having any breath-stealing spasms.
C. Her mobility was improved.
3.The reason behind the failure of genetic tests is?
A. The technology has still not improved much.
B. They focus 100,000 Genomes Project on a selection of known genes.
C. The persons who genetic structure is not being checked.
4.The country which launched the 100,000 Genomes Project is
A. United Kingdom
B.Australia
C.United States of America.
5.The main aim of the genome’s project is
A. to obtain better diagnoses
B. to spur the development of a UK genomics industry.
C. Both A and B
Questions 6-9
Do the following statements agree with the information given in the reading passage 3?
In boxes 6-9 on your answer sheet, write
TRUE if the statement agrees with the information.
FALSE if the statement contradicts with the information.
NOT GIVEN if there is no information on this
- Genomics England is a NHS owned company.
- With the data available with NHS, the genomes are part of regular NHS health records.
- The issue with 1000 genome project is identifying which genome variations cause disease and which are harmless.
- United Kingdom was the first country to launch a large-scale genomic analysis of its population.
- Precision Medicine Initiative is being carried out in United States.
Questions 11-13
Complete the summary below.
Write the answers in NO MORE THAN THREE WORDS in your answer sheet.
Genome project has already enrolled 3,500 people with rare diseases and 2,000 individuals with cancer, and will involve roughly 75,000 people altogether. Since the rare diseases are often inherited, genome of the affected person (usually a child) will be sequenced along with the genomes of two of their (11) _________________. People suffering from cancer will have their genome sequenced (12) ___________. The hope is that participants will benefit from clinical insights into their condition. But their genomes will also contribute knowledge of value to the entire patient community. One person’s prostate-cancer genome might reveal a lot about the genetic patterns. This will in turn help in learning which (13) _____________ will work best for the person suffering from cancer.
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