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Our group is interested in the translation of genome sequencing into routine clinical practice, with a focus on inherited heart diseases – a group of conditions affecting the structure and/or function of the heart. These conditions, which can affect people of any age, can be caused by a variant (mutation) in a single gene, so they often run in families.

We are a multidisciplinary group that includes researchers who also work in the NHS, closely linked to the OUH Inherited Heart Disease Service and the Oxford Molecular Genetics Laboratory.

Genome sequencing is new technology that can be useful for understanding the causes of rare disease that is suspected to be inherited. Genomic data are highly complex – every genome contains a very large number of variants, and showing that a particular genetic variant is the cause of disease can require several lines of evidence.

We are interested in the translation of this technology into clinical practice, as well as the psychosocial impact and ethical implications that these technologies might have for patients, families and healthcare systems.

We have a particular interest in the issue of ‘secondary findings’—genetic variants that are unrelated to the condition for which the testing was carried out. Some secondary findings might indicate that a person has, or is at risk of developing a serious health condition. At present it is unclear how secondary findings should be handled.  

A large number of patients in our service with Hypertrophic Cardiomyopathy (HCM) have been recruited to the NIHR BioResource for Rare Disease, a genome sequencing study led by a team at the University of Cambridge. Results from this study will help to understand genetic contributions to HCM.

Clinical studies and trials

Molecular Genetic Studies of Individuals and Families at risk of Inherited Cardiac Disease (09/H0605/3)

Molecular Genetic Analysis and Clinical Studies of Individuals and Families at Risk of Genetic Disease (MGAC; 13/WM/0466)

NIHR BioResource for Rare Disease (13/EE/0325)

Secondary Cardiac Findings Evaluation (SCARFE)


Katja Gemlich

Martin Farrell

Mike Parker (EthOx)

NIHR BioResource for Rare Disease


Wellcome Trust Centre for Human Genetics


Oxford NIHR Biomedical Research Centre

NIHR (Kate Thomson)


Considering stakeholders in policy around secondary findings in genomics. (September 1, 2016). Michael Mackley. Bill of Health. Petrie-Flom Center, Harvard Law School, Harvard University, Boston, USA 

Do you really want to know what’s lurking in your genome? (February 24, 2017). Michael Mackley. The Conversation UK. 


Rob Hastings