19.07.12 External agencies

Question 1

What is the BSGM

Answer 1

British Society for Genetic Medicine

Question 2

What does the BSGM do

Answer 2

Independent body representing UK Human genetics professionals. Aims to advance science of human genetics, provision of genetics services at national level

Question 3

What is the ESHG

Answer 3

The European Society of Human Genetics

Question 4

What does the ESHG do

Answer 4

• To promote research in human and medical genetics
• ensure high standards of genetic services in europe
• facilitate collaboration

Question 5

What is the ACGS

Answer 5

Association for Clinical Genomic Science

Question 6

What does the ACGS do

Answer 6

Largest constituent group of BSGM

4 subcommittees

• Scientific
• Quality
• Workforce development
• Communications

Advancement of education, research and innovation in clinical genetic science

Question 7

What is the ACS

Answer 7

Association of Clinical Scientists

Question 8

What does the ACS do

Answer 8

• Assess clinical scientist prior to HCPC registration

- Upholds and inproves standards of training, qualification and conduct

Question 9

What is the NSHCS

Answer 9

National School for Healthcare Science

Question 10

What does the NSHCS do

Answer 10

• Formed as part of the modernising scientific careers programme
• support and implement delivery of new healthcare science education and training

Question 11

What is RCPath

Answer 11

Royal College of Pathologists

Question 12

What does the RCPath do

Answer 12

• Advance the science and practice of pathology

- Maintains professional standards

Question 13

What is HCPC

Answer 13

Health and Care Professions Council

Question 14

What does the HCPC do

Answer 14

• regulates 15 health care professions
• Regulating public body to protect public
• Approves and upholds high standards of education, training and good practice

Question 15

What is UKAS

Answer 15

United Kingdom Accreditation Service

Question 16

What does the UKAS do

Answer 16

National accreditation body that assesses and declares competence of organisations against internationally recognised standards

Question 17

What does the UK NEQAS do

Answer 17

• Provides comprehensive external quality assessments in laboratory medicine
• Aims to promote best practice and ensures standards
• Ensures results are accurate, reliable and comparable

Question 18

What is EMQN

Answer 18

European Molecular Genetics Quality Network

Question 19

What does the EMQN do

Answer 19

-Provides EQA services

Question 20

What is UKGTN

Answer 20

UK Genetic Testing Network

Question 21

What does the UKGTN do

Answer 21

• Advised the NHS on genetic testing
• Comprehensive list of UK genetic services
• Evaluates new tests (stopped 2018)

Question 22

What does the HUGO do

Answer 22

• Human Genome Organisation

- Involved in gene mapping and sequencing

Question 23

What does the HGVS do

Answer 23

• Human Genome Variation Society

- Established variant nomenclature guidelines

Question 24

What does Genomics England do

Answer 24

• Company owned by Department of health that was set up to deliver the 100k genome project
• Aimed to benefit patients, enable new scientific discovery, kickstart the development of UK genomics industry

Question 25

What does a GeCIP do

Answer 25

• Genomics England Clinical Interpretation Partnerships

- Optimise clinical data and sample collection, clinical reporting, data validation and interpretation.

Question 26

What does HTA do

Answer 26

• Human Tissue Authority
• Licences organisations that store and use human tissue.
• Regulates removal, storage, and use of tissue for research, medical treatment, teaching

Question 27

What is the Human Tissue Act 2004

Answer 27

• Legislation that regulates the removal, storage and use of human tissue.
• Makes it an offence to have human tissue with the intention of using its DNA without the consent of the individual from whom the tissue came from