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06-09-2011 | Cardiology | Article

Genetic screening by nurses for inherited cardiac diseases could reduce referrals


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MedWire News: Training hospital nurses to carry out genetic testing for cardiovascular diseases before triage could significantly reduce the number of referrals to specialist genetics services, research suggests.

Pre-genetics triage at the North of England Cardiac Family History Service has reduced cardiac genetic referrals to the Northern Genetics Service (NGS) by 30% since 2009.

The preliminary findings come from the UK's first studies of pre-genetics triage led by Paul Brennan (Institute of Human Genetics, Newcastle upon Tyne, UK).

Speaking to MedWire News, Brennan explained that his research comes following the creation of a UK National Health Service (NHS) mandate for a new type of service to identify and manage patients with inherited heart disease.

"We've had some experience in the North East with cancer genetics and discovered that if you trained nurses in secondary care to take family histories from people who have cancer, you can start to identify some of those families with inherited cancer. We reasoned that it would probably work with cardiac disease," he said.

Brennan and colleagues decided to focus on genetic screening before triage after noticing that referrals to the NGS had increased "in an almost uncontrolled way" by at least 10% per year over the past decade. However, the majority of the patients referred turned out not to have a genetic risk for disease.

Therefore, "one way of controlling the genetics service is to identify people who don't need to come before they're even referred," he said. This allows genetics services to identify and manage resources, and ensure that their patients are properly cared for.

The study adopted a network approach. Three nurses were recruited and trained to MSc (Master of Science) level in genetics sciences and counseling, to enable them to take family histories and communicate genetic information.

The researchers then worked with the Cardiovascular Network to develop ratified guidelines that included referral guidelines into the service, and guidelines for the nurses, which instructed them exactly how to do their job. These guidelines included information on which questions to ask while taking a family history, how to interpret the family history, and which subsequent tests to do.

If a patient was found to be at risk for inherited cardiac disease, the nurses drew a pedigree and identified who else in their immediate family was potentially at risk. Patients and those family members at risk were then offered an electrocardiogram (ECG) scan. Patients found not to be at risk were discharged back to the referring doctor.

Preliminary results showed that of all the families referred to the genetics service, approximately 40% had inherited heart disease.

This means that nearly 60% of families who came through pre-genetics triage did not need to be referred through to the genetics service.

"That's quite good, because nobody particularly likes the suggestion that they've got hereditary disease," commented Brennan.

He went on to explain that pre-genetics triage comes with inherent advantages over other risk prediction methods.

"If you're actually testing the genes themselves, rather than using a heart scan, that gives you 100% certainty over who has the gene [causing inherited cardiac disease] as well as the chances that their immediate family member has the gene."

Brennan believes the success of his study should be shared and integrated into primary and secondary care. Furthermore, he says the findings show that the new NHS proposals for genetics services to be commissioned centrally should be reconsidered.

The study was presented at the British Human Genetics Congress.

MedWire ( is an independent clinical news service provided by Springer Healthcare Limited. © Springer Healthcare Ltd; 2011

By Piriya Mahendra

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