Download House of Lords Science and Technology Committee

www.ukgtn.nhs.uk
Human Genetics Commission
A Common Framework of Principles for Direct-toConsumer genetic testing services
Submission by:
UK Genetic Testing Network Project Team
UKGTN Project Director:
Jacquie Westwood
(Director Acute Commissioning Tower Hamlets PCT)
Project Team:
Interim Clinical Advisor:
Dr Shehla Mohammed
(Consultant Geneticists Guys & St Thomas’ Hospital)
Scientific Advisor:
Molecular
Su Stenhouse
(Head of Laboratory, South West Scotland Regional Genetics
Centre, Glasgow)
Interim Scientific Advisor:
Cytogenetics
Val Davison
(Head of Laboratory, Birmingham Regional Genetics Centre)
Public Health Advisor
Dr Mark Kroese
(Consultant Public Health, Peterborough PCT)
Communications Specialist
Service Development Manager
Dr Jacqui Hoyle
Jane Deller
Contact:
UKGTN, c/o National Specialised Commissioning Group, NHS London, 2nd Floor
Southside, 105 Victoria Street, London, SW1E 6QT
Tel: 020 7932 3969, email: [email protected]
The United Kingdom Genetic Testing Network: Background
The UKGTN Steering Group was established in 2002 as a sub group of the Department of Health’s
national Genetics Commissioning Advisory group (GenCAG). It is a collaborative group of NHS
laboratory scientists, clinical geneticists, genetics commissioners and patient representatives. It
aims to promote the provision of high quality equitable genetic testing services for NHS patients
across the UK. This involves evaluating new tests and recommending to commissioners those
appropriate for service. There are 31 member laboratories from regional genetics and other
specialist laboratories. A small project team and five working groups carry out the work on behalf
of the Steering Group.
The UKGTN has an internationally recognised process (commonly referred to as the “Gene
Dossier process”) to evaluate new genetic tests (within its scope) being proposed for NHS service
from its member laboratories. Tests that pass the UKGTN evaluation process are recommended
to commissioners for funding via GenCAG. A Directory1 is produced annually listing all the tests
that have been through this process and the associated testing criteria to promote appropriate
referrals. The Genetic Interest Group reports that patients have recognised the increased
availability of genetic tests because of the UKGTN system. Different approaches are used
internationally2, but the UK is seen as a world leader.
1. The Directory of genetic tests that have been evaluated and are available from UKGTN member
laboratories is available from the UKGTN website at www.ukgtn.nhs.uk
2. The evaluation of clinical validity and clinical utility of genetic tests (September 2007), authors Dr
Mark Kroese, UKGTN Public Health advisor; Dr Rob Elles, Director NGRL Manchester; Dr Ron
Zimmern, Executive Director PHG Foundation.
04/12/09
1
www.ukgtn.nhs.uk
Q1 - Agree and support.
Q2- Agree – categories of tests that should not be offered direct to consumers are i)
pharmacogenetic ii) nutrigenetic and iii) genetic matching.
Q3- Agree with the approach outlined using thresholds and defining test impact.
Q4- Pharmacogenetic tests should be excluded from the Principles remit as these tests
should be part of the clinical management of an individual and therefore it is less
appropriate to be offered as DTC. If offered by a provider then the pre/post test counselling
requirements should remain.
Q5- a) - Yes, support
b) - Yes, provides guidance on the tests in each classification and agree it would
provide consistency.
Q6) a) - No, the principles apply to all genetic tests
b) - No, providers will be able to use standardised approaches to providing the
necessary information and the information to be provided is not excessive compared to
other products e.g. medicines.
Q7) Yes - consistent with other HGC and national professional guidance with regard to
genetic testing in children.
Q8 Some form of confirmation e.g. signature is sufficient as the responsibility then is
clearly with the person asking for genetic testing. Providers should be expected to provide
more robust assurance.
Q9 Supported but further clarification is needed to confirm the level of responsibility on the
provider.
Q10) UKGTN is not qualified to respond
Q11) a) Yes
b) Consider the costs necessary in providing a safe product and inform the consumer
on what is being purchased. Again reference to medicines and the cost of providing the
necessary information with drugs is deemed acceptable. Different approaches to
counselling and providing the necessary information can be considered and developed.
In general, the UKGTN Project Team consider the principles to be very good. The UKGTN
Project Team do not support genetic exceptionalism and these principles could apply to
other diagnostic tests which have the same impacts.
04/12/09
2