Week 10

Question 1

Who announced the 100,000 genomes project and what was it?

Answer 1

David Cameron, to sequence 100,000 genomes from 85,000 NHS patients

Question 2

What were the four main aims of the 100,000 genomes project?

Answer 2

• Create ethical transparent programme based on consent
• Bring benefits to patients and set up genomic medicine service for the NHS
• Enable new scientific discovery and medical insights
• Stimulate development of a UK genomics industry and investment

Question 3

What help to deliver the 100,000 Genomes Project?

Answer 3

NHS Genomic Medicine Centres, track record of providing excellence in genomic services. Who recruit the patients, gain the informed consent, collect the samples for DNA extraction and pass on the clinical information.

Question 4

Who was eligible for the 100,000 genomes project?

Answer 4

Anyone with a rare disease, most cancer patients, with tumour and blood DNA extraction

Question 5

What percentage of rare diseases are genomic?

Answer 5

80%

Question 6

How could genotyping cancer patients help to find new therapies?

Answer 6

Mutation in genes initiate or drive cancer progression, understanding the driver and the initiator mutations, will help guide therapies.

Question 7

What is being looked for in the patients with cancer in the 100,000 genomes project?

Answer 7

Investigating whether there are any germline mutations causing the cancer, but also comparing it with somatic mutations in the cancer.

Question 8

What are the three pieces of information needed for this project?

Answer 8

• Your health data
• You medical record data
• your genome data

Question 9

What are the benefits of this project?

Answer 9

Could help to improve the current drugs, or create new drugs, or create new diagnostic tests.

Question 10

What are GeCIP domains?

Answer 10

researchers and clinicians improving the clinical application and interpretation of 100,000 Genome Project data.
There are 38 different GeCIP domains.

Question 11

When did the genome project stop recruiting participants?

Answer 11

In December 2018

Question 12

How has the 100,000 Genomes Project data, make cancer therapy less toxic?

Answer 12

Advised whether cancer patients should be genotyped for four variants in DYPD, which increase the risk of adverse drug reaction, patients with these variants should have lower dosage of capecitabine and 5-Fluorouracil

Question 13

Why should results always be confirmed?

Answer 13

There should be validation that the variant is present as the sample could have been contaminated or shown false results

Question 14

What does a genomic lab report contain?

Answer 14

The patient information, The result summary, the implications and the technical information

Question 15

What was Jessicas story of epilepsy?

Answer 15

Jessica and her parents donated blood, of which there DNA was sequenced, a variant was linked to Jessicas symptoms, there was a deletion in the SLC2A1, causing a Glut 1 deficiency, meaning glucose is not being transported in to the brain, The project lead to faster diagnosis, which will help others with this rare disease

Question 16

What is the SLC2A1 gene?

Answer 16

It encodes glucose transporter protein type 1 (Glut1), Mutations cause Glut1 deficiency syndrome, transports glucose into the brain as fuel. Also a ketogenic diet, has been shown to reduce number of seizures.

Question 17

What was shown in case two, in the 4 month old baby?

Answer 17

Fluctuating neurology, repeated infection, died at 4 months, but the project found the baby had a mutation responsible for transporting vitamin B12 into cells. but it helped in the sibling, as it was tested for and high doses of vitamin B12 was given and this mostly helped

Question 18

What was shown in Case 3, in the 5 year old boy with Anaemia?

Answer 18

The project showed that a child with Diamond Blackfan anaemia had a pathogenic mutation in the thyroid hormone receptor alpha, the anaemia and constapation could be treated with a high dose of thyroid hormone. The project improved quality of life.

Question 19

What was shown in case 4, Tilly with uncontrollable epilepsy, unable to communicate?

Answer 19

Diagnosis of degenerative neurological disorder, The project diagnosed with GAMT deficiency, which can be treated with creatine, ornithine and arginine, Epilepsy free, learning new skills, improving.

Question 20

What is the future from the 100,000 Genome Project?

Answer 20

• Therapies that read through a stop codon
• RNA therapies
• Gene therapies
• Gene editing