The PHG Foundation is a policy think tank focused on genomics and related life sciences technologies for improving healthcare. It was established in 1997 as part of the University of Cambridge and is funded through philanthropy, grants, and commissions. The Foundation's vision is for advances in life sciences to be responsibly applied to promote health and disease prevention. It conducts research and policy work on issues like implementing genomics in clinical care, polygenic risk scores, citizen data and health, and artificial intelligence for genomic medicine. The Foundation also provides secretariat support and leads discussions on personalised medicine. It works with academic and industry partners in the UK and internationally on projects regarding cancer, infectious diseases, and evaluating genomic programs.

1. Making science work for health
Dr Mark Kroese
20 April 2023

2. Who we are
A policy think tank focused on genomics and related technologies and
how they can be used for better, more personalised healthcare.
Our vision
A society that makes the best possible use of advances in life sciences to
promote health and improve the prevention and treatment of disease by
making responsible changes in health policy and the organisation of
health systems
• Established in 1997
• Part of the University of Cambridge
• Funded by philanthropy, grants, and commissioned work

3. Our work: PHG led
• Genomics in mainstream
clinical pathways (2018)
• Polygenic risk scores for
cardiovascular disease
(2019)
• My Healthy Future (2019)

4. • Citizen generated data and
health (2020)
• Artificial intelligence for genomic
medicine (2020)
• Polygenic scores and clinical
utility (2020)
• Implementing polygenic scores
for cardiovascular disease into
NHS Health Checks (2021)
• Polygenic scores for cancer
(2022)
Our work: PHG led

5. Explainers (18)
Policy briefings (29)
Our work – PHG led
Podcasts (3)

6. Discussion papers (5)
Consultations (28)
Blogs (201)
Secretariat for the
All-Party Parliamentary
Group (APPG) on
Personalised Medicine
(2015-2020)
Our work: PHG led

7. Our work – UK commissioned / funded
• NHS England – The personalised
medicine technology landscape
(2018)
• PHE – Gastrointestinal bacteria
reference unit pathogen genomics
case study (2018)
• Wellcome Trust – Black Box
Medicine and transparency (2020)

8. Our work – UK commissioned / funded
• Information Commissioner’s Office –
GDPR and Data Protection Act on
Regulating Genomic Technologies in
Healthcare (2020)
• NHS Scotland – Clinical genomic
analysis evidence review (2020)
• AHSN Network – Genomic innovation:
technologies for personalised medicine
(2020)
• NIHR – Control of patient information
in the COVID-19 era (2021)

9. Our work – UK commissioned / funded
• NHS Scotland – International models of
service delivery for laboratory genomics
(2021)
• Genomics England – The ethical and legal
framework for a Genomics England and
Sano Genetics participant engagement
platform (2021)
• UKRI – ISCF Precision Medicine evaluation
(partner with SQW) (2021-23)

10. • DHSC – Polygenic scores: A
background paper for the Equity in
Medical Devices Independent Review
(2022)
• MHRA – Regulatory review of
synthetic health data (2023)
Our work – UK commissioned /funded

11. Our work – academic partners
• B-CAST – Breast Cancer Stratification:
understanding the determinants of risk
and prognosis of molecular subtypes (EU
funded)
• ExACT – European network staff eXchange
for integrating precision health in the
health Care sysTems (EU funded)
• Centre for Medical Ethics and Law – HKU
webinars
• PROPHET – A Personalized Prevention
Roadmap for the future healthcare (EU
funded)

12. • Da Vinci (THIS Institute) – Visual
identifiers in the care of people with
dementia – An ethical and legal
analysis
• DELTA (Innovate UK / ICSF) –
integrateD diagnostic solution for
EarLy deTection of oesophageal
cAncer)
• EXPRESS (NIHR) – Optimising EXome
PREnatal Sequencing Services
Our work – academic partners

13. FIND -the global alliance for diagnostics
• Next generation sequencing for SARS-CoV-2
/ COVID-19 (2020-21)
• SARS-CoV-2 variants of concern (2021)
• Next generation sequencing for viral
haemorrhagic fevers (2021)
• Sequencing for antimicrobial resistance
surveillance (2022)
• Near patient pathogen sequencing (2022)
Our work – international commissioned / funded

14. Our work – international commissioned / funded
• WYNG Foundation – policy briefings
• Health Action International – diagnostics to
address antimicrobial resistance (2023)
• University of Hong Kong – evaluation of Hong
Kong Genome Project

15. November 2020
November 2020
Example of impact
• RNA vaccines: an introduction policy briefing
– over 1 million views & 18,000 downloads

16. Example of impact
The PHG Foundation has produced a series of reports
which set out the potential applications of polygenic
scores for risk prediction in different contexts, as well as
outlining current gaps in the scientific evidence
“
”
Genome UK: 2022 to 2025 implementation plan for England
Department of Health and Social Care, December 2022

17. Next: increasing UK and international impact
• Developments in clinical genomics
• Pathogen genomics
• Polygenic scores
• Legal and regulatory analysis
• Ethical issues associated with
genomics and new technologies
• Host genomics in response to
infectious diseases
• Environmental human genomics

18. • How can we help you?
• What areas should we be investigating?
Please give us your suggestions and thoughts
What next?