Ep.2 Genetics, Family History & Breast Cancer

In this episode, Dr Hong Tseung (GP Clinical Lead at the Cheshire & Merseyside Cancer Alliance) and Ms Tanya Davis (Senior Genetic Counsellor and Breast Care Lead at the Liverpool Centre for Genomic Medicine) discuss family history risk assessment for breast cancer. They talk about how assessments are carried out in primary and secondary care, when genomic testing may be appropriate, and how to make appropriate referrals to the Family History Clinic or Genomics services. They also outline the differences between “Mainstream” and “Diagnostic” genetic testing. Practical resources are included to support listeners’ clinical practice and deepen their understanding.

Here are the links to the resources mentioned in the episode:
1. Primary Care & Genomics Resources, Cancer Academy, Cheshire & Merseyside Cancer Alliance 
https://cmcanceralliance.nhs.uk/resources/genomics/breast-genomics 
(free access but requires registration – also free) 

2. Cheshire & Merseyside Cancer Alliance: Referral from Primary Care to the Family History Clinic in Secondary Care 
https://cmcanceralliance.nhs.uk/application/files/9717/8230/0680/Female_Breast_Family_History_Referral_vF2.0.pdf 

3. NICE Clinical Guideline (CG164) on Familial Breast Cancer 
https://www.nice.org.uk/guidance/cg164  

4. RCGP E-Learning Genomics Toolkit 
https://elearning.rcgp.org.uk/mod/book/view.php?id=12892

5. Royal Marsden Beginner’s Guide to BRCA1 and BRCA2 (patient friendly resource) 
https://patientinfolibrary.royalmarsden.nhs.uk/brca1brac2  
 
6. Preventative and Prophylactic Surgery 
https://www.bmj.com/content/376/bmj.o258 
 
7. CanRisk 
https://www.canrisk.org/  

8. GatewayC E-Learning Course– The Role of Genomics in Primary Care 
https://www.gatewayc.org.uk/courses/the-role-of-genomics-in-primary-care/  
 
9. GeNotes: a reliable place to check pathways and assessing which patients need onward referral. The section for Primary Care has a number of scenarios about cancer. 
https://www.genomicseducation.hee.nhs.uk/genotes/primary-care/  
 
10. NHS National Genomic Test Directory Version 8.1, 2025:  
(Part XI – Inherited Cancer: R208 Inherited Breast Cancer and Ovarian Cancer: pages 186-188 
https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-eligibility-criteria-V8.1.pdf