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The genomic basis of
heart failure

We do not know exactly what causes heart failure (HF), but scientists believe that genetic make-up combined with environmental and lifestyle factors may be at play. The Genuity Science HF research study aims to explore this relationship between genomics, HF, and environmental/lifestyle factors in order to identify patterns that will help deepen our understanding of the disease.

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Genuity Science is working to bridge the knowledge gap

Much research has been carried out to examine the causes of heart failure and to date, several genetic variants (changes) have been identified. However there remains a large gap in our knowledge of what genes drive the progression of the different HF sub-types; Heart Failure with preserved Ejection Fraction (HFpEF), Heart Failure with reduced Ejection Fraction (HFrEF), and Heart Failure with mid-range Ejection Fraction (HFmrEF), all of which have distinct aetiologies, co-morbidities and response to therapies.

The Genuity Science Heart Failure study aims to bridge this knowledge gap by conducting a study that explores each of these three sub-groups, in the hope of identifying novel variants that drive disease progression.

Aims of the Genuity Science heart failure study

  • to understand why some people develop heart failure and others do not
  • to understand why some people develop different forms of the disease, namely HFpEF, HFrEF and HFmrEF
  • to determine whether certain lifestyle or environmental factors are triggers for heart failure
  • to identify genetic signatures that may assist in diagnosing heart failure patients earlier, improve diagnosis of the disease and help to develop more targeted treatments for the disease

Genomic Medicine for Precision Health

A genetic biomarker is described as a known DNA sequence that causes disease or is associated with susceptibility to disease. Using genetic biomarkers to predict the severity of HF for a person as well as how that person is likely to respond to treatment would tremendously improve our ability to manage the disease for that patient. Precision health is about prescribing an individual patient with the right drug, at the right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.

Heart Failure Risk Factors
Heart failure has a long list of risk factors, even when compared to other complex diseases. There are several clinical diseases that can increase the risk of developing heart failure in an individual including hypertension, coronary artery disease (CAD), kidney dysfunction, liver disease, diabetes, COPD and sleep disturbed breathing (SDB) 1, 2.
HF is predominantly a disease seen in the ageing population. Lifestyle-related risk factors include smoking, obesity, high blood pressure and high cholesterol 5.
It is also well-known that a family history of cardiovascular disease in parents is a risk-factor, increasing susceptibility to HF development by about 18% 4 . Studies to date have also identified several genes that are associated with an increased risk of the disease 3.
Genuity Science’s Whole Genome Sequencing, together with our deep phenotypic data analysis (clinical information regarding symptoms, and demographics, such as age, ethnicity and sex) will help further this research.
Current Heart Failure Treatments
Treatments available for HF patients vary greatly depending on the sub-type in question. While several effective therapies exist for patients with reduced ejection fraction (HFrEF), to date no treatment has been shown to effectively reduce mortality or morbidity in patients with preserved ejection fraction (HFpEF). The primary aim of treatments available for HF are to improve the patient’s clinical status and quality of life. Current treatment options for HFrEF patients include angiotensin converting enzyme inhibitors (ACE-Is), beta-blockers,
angiotensin receptor blockers (ARBs), mineralocorticoid/aldosterone receptor antagonists (MRAs) and angiotensin receptor neprilysin inhibitors (ARNIs) 1. Unfortunately, these medications are less effective in HFpEF patients. There is a clear need for more targeted therapies for certain subtypes of HF, as well as in specific HF populations such as very young patients, very old patients, and patients with extremely impaired renal function who are facing complex treatment plans.

Heart Failure and Classification

Heart Failure (HF) is a clinical syndrome caused by cardiac dysfunction, meaning the heart has difficulty pumping blood around the body. Symptoms of heart failure include fatigue, shortness of breath and ankle swelling 1. The severity of disease can vary greatly between different people. Furthermore, some patients respond well to treatments while others do not respond as well. These differences indicate that there are many complex pathways at play in the development of heart failure.

There are two main HF sub-types, and they are distinguished based on the LVEF (left ventricular ejection fraction) which is a measurement of how much blood is being pumped out of the left ventricle of the heart. Patients with an LVEF of >50% are said to have normal LVEF, known as HFpEF (heart failure with preserved EF). Patients with an LVEF of <40% are said to have reduced EF, HFrEF. A small proportion of patients fall somewhere between these two sub-types and are referred to as having a mid-range EF, HFmrEF 1. Diagnosis of these sub-types is made by carrying out an ultrasound of the heart known as an echocardiogram, in addition to measuring the levels of natriuretic peptides (BNP) in the blood.

Genuity Science’s Heart Failure Research Study

The Genuity Science Heart Failure Study is a population-based study, which means the data is grouped with thousands of other participants with HF so that researchers can identify patterns that may help answer some important questions about the disease. This exploration of genetic and environmental risk factors, as well as the biological processes associated with HF will contribute to a better overall understanding of HF, paving the way for the development of new treatments and earlier intervention therapies for HF patients.

Over 4000

people with Heart Failure have already taken part in this study.

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