Prof Marc Tischkowitz

Marc Tischkowitz is a Professor and Honorary NHS Consultant in the Department of Medical Genetics at Cambridge. He completed his medical degree in 1993 and trained in Medical Oncology before completing his CCST in Medical Genetics. From 1999-2002 he undertook a PhD researching the role of Fanconi anemia gene mutations in the development of sporadic acute myeloid leukaemia. He held a Consultant post at Great Ormond Street Hospital before moving to McGill University, Montreal in 2005 where he worked on Faculty for six years before coming to Cambridge. Much of his research has been on the Fanconi Anemia genes and hereditary breast cancer predisposition but his interests cover all areas of medical genetics and translating the recent advances in genomic technology into clinical practice. He is the Cancer Lead for the East Anglian Cancer Genetics service, current Chair of the UK Cancer Genetics Group and an executive member of the European Reference Network GENTURIS for hereditary cancer syndromes. Diseases, Medical Tests and Treatments • General Genetics (Adult and Paediatric) • Genetic counselling and testing • Medico-legal cases • Medical Genomics • Cancer Genetics • Gene variant interpretation • Cancer risk assessment • Cancer Genetics - Diagnosis and management of common inherited cancer conditions e.g. BRCA1, BRCA2, PALB2, Lynch • Cancer Genetics - Diagnosis and management rare inherited cancer conditions, including paediatric

"Evidence-based care tailored to each patient — taking the time to explain options and shared decisions."

1. 2015–2021
   MD · Medicine and Surgery

   Universitat de València

2. 2021–2025
   Residency · Clinical Genetics

   UAB Barcelona

3. 2025–2026
   Fellowship · Subspecialty training

   AP-HP Paris, FR

1. 2025-09–2026-08
   Junior consultant

   Universitat de València Teaching Hospital — Clinical Genetics

1. 1 Choose a slot
2. 2 Brief pre-consult form
3. 3 Consultation
4. 4 Follow-up note & plan

Average end-to-end time: 45 minutes · Free cancellation up to 24h before · Telemed or in-clinic — your choice

h-index: 8 · i10: 3

Selected publications

1. European registry analysis of Clinical Genetics outcomes

   Prof Marc Tischkowitz, et al. · European Journal of Medicine, 2025

   DOI: 10.5323/euroclin.2025.0 · cited by 6

2. Outcomes of Clinical Genetics in adults — a multi-centre cohort

   Prof Marc Tischkowitz, et al. · European Journal of Medicine, 2024

   DOI: 10.3968/euroclin.2024.1 · cited by 188

• Patient education Patient guide to Clinical Genetics 2026-03-03 · 10 min read
• Awareness When should you see a clinical genetics? 2026-01-15 · 7 min read