Cardiogenetics
Cardiovascular Disease in Ireland
In Ireland, heart disease has a high prevalence rate. While lifestyle factors such as physical fitness, healthy diet, and non-smoking status reduce the risk of cardiovascular disease, they do not eliminate the risk of inherited cardiac disorders. Certain cardiomyopathies and arrhythmia syndromes are caused by pathogenic genetic variants and may predispose to sudden cardiac death (SCD), even in otherwise healthy individuals.
Current indications for cardiogenetic testing
International guidelines recommend testing in the following situations:
- Patients with a suspected or confirmed inherited cardiac disease, such as Hypertrophic Cardiomyopathy (HCM), Long QT Syndrome (LQTS), Brugada Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), or Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
- First-degree relatives of an individual carrying a known pathogenic variant (cascade screening).
- Asymptomatic individuals with a strong family history of premature sudden cardiac death or a clinically diagnosed inherited cardiomyopathy/arrhythmia syndrome.
Genetic inheritance and testing strategies
Most pathogenic variants follow an autosomal dominant inheritance pattern, though autosomal recessive and X-linked forms are occasionally observed. Next-Generation Sequencing (NGS) technologies enable rapid and reliable identification of these variants.
Genetic testing such as Targeted gene panels or Whole Exome Sequencing (WES) are appropriate when a specific inherited cardiac disorder is suspected.
Genetic testing via Targeted Gene Panels or Whole Exome Sequencing (WES) are appropriate when a specific inherited cardiac disorder is suspected.
Clinical impact
Early identification of pathogenic variants allows:
- Confirmation of diagnosis and risk stratification
- Tailored preventive strategies (e.g., lifestyle modification, pharmacological therapy, ICD implantation when indicated)
- Guidance for family screening and genetic counselling
For cardiologists seeking advice on optimal use of cardiogenetic testing in clinical practice, please contact us to discuss case-specific strategies.
You can choose a gene panel or Whole Exome Sequencing test
Gene Panel:
Test Request Form: https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/B61-INTGB-Cardiogenetics.pdf
Whole Exome Sequencing test:
Choose WES instead of a gene panel if you suspect a genetic origin but the specific gene(s) are unknown, or when symptoms are unusual or affect multiple organ systems
Read more: https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/DS34-INTGB-Exome.pdf
Test Request form: https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/B34-INTGB-Exome.pdf
PharmacoGenetics (PGx) – a Companion Diagnostic
A Pharmacogenetic test helps you choose the right medication and dose for your patient to deliver the best possible outcome and avoid adverse drug reactions. Without a PGx test, you do not know if your patient has a DNA variant which can result in them getting too much or too little of a drug, despite the dose being a standard dose. Many drugs, that your patients may need one day, have been studied for known DNA sequence variants (statins, anaesthetics, anti-blood clotting meds, anti-hypertensives, opioids, antibiotics, anti-diabetics) and guidelines exist to protect your patient. PGx is highly useful as a companion or pre-emptive test in cardiology and can be used post treatment, to explain why inefficacy or adverse drug reaction were observed.
Pharmacogenetics (PGx) test:
This test is designed to reduce adverse drug side effects and improve drug efficacy.
Test request form:https://www.eurofins-biomnis.com/referentiel/liendoc/renseignements/INTGB/B110-INTGB-Profil_pharmacogenetique.pdf
