This is a brand new course, part of which has been developed alongside specialists at Guy’s and St Thomas’ NHS Foundation Trust. It is a fantastic introduction to both cancer genomics and clinical genetics, providing doctors and other healthcare professionals with a solid foundation of knowledge in these areas which are rapidly expanding and revolutionising how clinical medicine is practised day to day. Being aware of the current advances in genetics and genomics will be invaluable for all healthcare professionals going forward and it is vital that clinicians seek to educate themselves in these developing areas.

About the Authors

Dr Anju Kulkarni

Consultant Clinical Geneticist, Guy's and St Thomas' NHS Foundation Trust

Dr Anju Kulkarni is a Consultant Clinical Geneticist at Guy’s and St Thomas’ NHS Foundation Trust. She has specific expertise in Cancer Genetics and is one of the few clinical geneticists nationally to have trained at specialist level in both Medical Oncology and Clinical Genetics giving her an in-depth knowledge of genomics and translational medicine within cancer care.Dr Kulkarni leads the cancer genetics service at Guy’s Hospital and holds several regional and national roles, including council member of the UK Cancer Genetics Group, medical advisor to the UK Genetic Counselling Registration Board and member of the Sarah Cannon Research Institute’s Genomics Review Board. She has extensive experience in Cancer Genetics having published, presented and taught on the topic at national and international level. Dr Kulkarni has a track record of establishing policies and guidelines relating to cancer genetics, by working with a broad range of colleagues across genetics and allied specialties.Dr Kulkarni has been instrumental in the establishment of several new service initiatives within Guy’s and St Thomas’ NHS Foundation Trust, including an internationally recognised Cancer Genetics app. She has a passion for developing innovative technologies and using digital transformation in the field of genomics to improve patient care.

Dr Vishakha Tripathi

Consultant Genetic Counsellor, Guy's and St Thomas' NHS Foundation Trust

Dr Vishakha Tripathi is a Consultant Genetic Counsellor at Guy’s and St Thomas’ NHS Foundation Trust and leads a large team of Genetic Counsellors and Nurses. She has worked in the fields of medicine, special needs teaching and genetic counselling through her career of 18 years with a clinical interest in cancer genetics and genomics. She is also clinical lead for the hereditary breast and ovarian cancer service as well as the Cancer Risk Assessment Service for South East London.Dr Tripathi has held several national consultancy and leadership positions having worked with the National Screening Committee, Genomics Clinical Reference Group and with the Professional Standards Authority and is the current Chair of the Genetic Counsellor Registration Board. She is the lead station writer for genomic counselling through the National School of Healthcare Science and an AHCS equivalence assessor and has led the South London Genomic Medicine Centre Education initiative for Guy’s and St Thomas’ NHS Foundation Trust in the past.Part of Dr Tripathi’s clinical role involves education and she leads the delivery of a successful annual cancer genetics course which has a track record both within the UK and abroad over the last ten years. She is passionate about the Genetic Counselling profession and is a strong patient advocate believing in the value of both high quality information in conjunction with the use of psychosocial skills for the benefit of patients.

Ms. Alice Coulson

Genetic Counsellor, Guy's and St Thomas' NHS Foundation Trust

Alice is a Genetic Counsellor at Guy’s and St Thomas’ NHS Foundation Trust, having recently completed the NHS Scientist Training Programme in Genomic Counselling. Alice sees patients for both diagnostic and predictive cancer genomic testing as well as working in the Hereditary Breast and Ovarian Cancer service. During her training, she has developed an interest in education and training initiatives and undertook an elective placement at the Genomics Education Programme.Alice has a Master’s degree in Genes, Environment and Development in Psychiatry and Psychology. She previously worked at the Social, Genetic and Developmental Psychiatry Centre recruiting participants to the NIHR Mental Health Bioresource and developing the online Talking Therapies Research Resource.Alice is excited about the future of genomics in healthcare and wants to ensure patients are empowered in their choices for testing and management. She is looking forward to pursuing a career as a cancer genetics counsellor and championing Nucleus within the mainstream arena.

Dr. Elizabeth Forsythe

Dr Elizabeth Forsythe is a Genetic Clinical Research Fellow at UCL.

Dr. Yusuf Karmali

Fellowship Programme Clinical Lead

Yusuf is a Medics.Academy Programme Manager, Clinical Lead for the Medics.Academy Fellows Programme and a Foundation Year doctor, graduated from Barts and The London School of Medicine. Throughout medical school, Yusuf was awarded numerous prizes for outstanding academic achievement and he delivered high-quality peer-teaching through student-led societies, in which he held various positions of leadership. His passion for education led to him joining Medics.Academy in July 2018, where he started as a fellow and lead author on the clinical genetics course. He went on to become a member of the Medics.Academy team as a Clinical Programme Manager and then has been the Clinical Lead on the highly successful Medics.Academy Fellowship Programme. He is also part of the F|Docs Faculty where he leads teaching sessions for foundation year doctors, and also enjoys teaching medical students as part of the S|Docs Programme. His other interests include medical technology and health policy.

Sifan Zheng

Sifan Zheng is a third-year medical student at King’s College London and a Fellow at Medics.Academy. He is currently writing for the Clinical Genetics course and the Wiley Paediatrics at a Glance series and is the clinical product manager for Legacy. Sifan is keenly interested health policy and is currently the President of King’s Think Tank. He has directed research into migrant mental health, health systems transformation, and sanitation inequality. Through his medical research, Sifan has presented his work at national and international conferences.

Catrin Sohrabi

Catrin is a medical student at Barts and The London with an interest in the application of cutting-edge learning technology to the delivery of high-quality educational material in medicine. She is particularly passionate about combining her interests in surgery and scientific research with a future academically-focused career. Having authored content on the ENT and Clinical Genetics curriculum, she is keen to continue to inspire interest in teaching and education during her role as a Medics.Academy Fellow.

Guy’s and St Thomas’ NHS Foundation Trust

Guy’s and St Thomas’ NHS Foundation Trust is one of the largest hospital trusts in the country, with an annual turnover of more than £1.7 billion; 2.6 million patient contacts a year, and employing 18,050 staff. The Trust comprises two of London’s oldest and best known teaching hospitals - Guy’s Hospital and St Thomas’ Hospital. It also includes the Evelina London Children’s Hospital, and both adult and children’s community services in Lambeth and Southwark.

The hospitals have a long history, dating back almost 900 years, and are world famous for medical breakthroughs and innovation, with the Trust’s staff continuing to live up to these pioneering traditions through their commitment to clinical excellence and world leading research.

Guy’s and St Thomas’ NHS Foundation Trust has a reputation for clinical excellence and high quality teaching and research, and is part of King’s Health Partners, one of six academic health sciences centres in the UK.

The Royal Brompton and Harefield hospitals became part of Guy's and St Thomas NHS Foundation Trust in February 2021, bringing together world-leading expertise and research in heart and lung disease.

Course Curriculum

  • 1

    Introduction and welcome

    • Welcome

    • Meet the course tutors

  • 2

    Nucleus: Basics of Cancer Biology and Genomics

    • Learning outcomes

    • Quiz

    • Cancer overview, genes and DNA damage

    • Types of genomic mutations

    • Cancer development genes

    • Sporadic vs hereditary cancer

    • Genomic technologies

    • Learning recap

    • Outcome of genomic tests
  • 3

    Nucleus: Cancer Susceptibility Genomics

    • Quiz

    • Learning outcomes

    • Introduction

    • Inherited cancer gene mutations and other interacting factors

    • Taking a family history

    • Genome wide association studies and polygenic risk scores

    • How to choose a genetic test

    • Cancer Genetics App

    • Learning recap
  • 4

    Nucleus: Principles of Genomic Testing

    • Learning objectives

    • Quiz

    • Introduction

    • Webinar: Principles of genomic testing

    • Case study: part 1

    • Case study: questions (part 1)

    • Case study: explanation (part 1)

    • Case study: part 2

    • Case study: questions (part 2)

    • Case study: explanation (part 2)

    • Case study: part 3

    • Case study: questions (part 3)

    • Case study: explanation (part 3)

    • Case study: part 4

    • Case study: questions (part 4)

    • Case study: explanations (part 4)

    • Learning recap
  • 5

    Nucleus: Precision Oncology - Clinical Applications

    • Learning objectives

    • Quiz

    • Introduction

    • Evolution of cancer

    • Gene and variant specific targets

    • Mutational signatures

    • Tumour mutational burden and immunotherapy

    • Intratumour heterogeneity

    • Incidental findings

    • Genomic Tumour Advisory Boards

    • Learning recap

    • Conclusion
  • 6

    Introduction to Clinical Genetics

    • Introduction

    • Clinical Genetics - Meet the course tutors

  • 7

    Clinical Genetics: Polycystic Kidney Disease

    • Genetics of polycystic kidney disease

    • Introduction

    • Aetiology

    • Clinical presentation

    • Diagnosis and Investigations

    • Genetic advice

    • Management

    • Prognosis

    • Support groups

    • Test yourself!

  • 8

    Clinical Genetics: Hereditary Haemochromatosis

    • Introduction

    • Genetics of Hereditary Haemochromatosis

    • Aetiology

    • Clinical features

    • Genetic advice

    • Investigations and management

    • Prognosis

    • Support group

    • Test yourself!

  • 9

    Clinical Genetics: Trisomy 21

    • Introduction to the genetics of Trisomy 21

    • Clinical presentation

    • Diagnosis

    • Genetic advice

    • Management and Prognosis

    • Support groups

    • Test yourself!
  • 10

    Clinical Genetics: Cystic Fibrosis

    • Genetics of Cystic Fibrosis

    • Introduction

    • Aetiology

    • Clinical Features

    • Diagnosis and Investigations

    • Genetic Advice

    • Management

    • Prognosis

    • Support Groups

    • Test yourself!
  • 11

    End of Study Day

    • Conclusion

    • Feedback

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