100,000 Genomes

Question 1

What are the aims of the 100,000 genomes project?

Answer 1

• identify new pathogenic variants
• identify new diagnoses for families
• bring genomics into routine healthcare (mainstreaming…..create a genomic medicine service within the NHS)
• increase public awareness, understanding and support

Question 2

What is the benefit of the 100,000 genomes project?

Answer 2

• discovery of new pathogenic mutations
• new drugs can be developed specific to the mutations
• clinical trials could become smarter

Smarter use of drugs:

• knowing mutations that patients have can lead to personalised treatment
• stops patients having to endure treatment that won’t work for them
• could use this genomic information to choose drugs with less side effects
• saves money by not using unnecessary drugs on patients that won’t work

Question 3

How does the 100,000 genomes project improve public awareness of genetics?

Answer 3

Media

• public hear about new diagnoses being made through the project through media channels
• one of first diagnoses made was family with rare kidney disease, other family members can now be monitored more closely for symptoms associated with the rare disease.

Question 4

What is the direct benefit to the NHS of the 100,000 project?

Answer 4

• exciting project which will encourage young people to get into science (future of healthcare science)
• helped the NHS as an organisation to begin integrating this into services (staff learning how to deal with samples efficiently)

Question 5

What next for the 100,000 genomes project?

Answer 5

Ultimately needs to become embedded in NHS and they want it to become a routine service.

Over the next 5 years the new aim is to sequence a million genomes.

From 2019, all children with rare diseases and cancer will be offered whole genome analysis.

Will also be offered to adults with rare disease and hard to treat cancers.

Question 6

What challenge may this present?

Answer 6

Lab currently has large amounts of patients left to process and discuss at MDT.
If we begin to process real patients who have turn around times then how will we fit these in around the research patients who were recruited years ago? Unethical that someone who has just been sent for testing would get their results before someone recruited to the project a year ago!!

Question 7

Next for 100,000?

Answer 7

Becomes embedded as routine service,
Workflows that we have set-up will now be used for real patient samples for certain referrals.
Challenge will be that theses samples will overlap with the remaining 100K patients, how will we prioritise these? They will become service work.