QGenome - a useful tool for families with Inherited Cardiac Conditions (ICC)

Mark is a 28-year-old gentleman. He went to his local Hospital because of shortness of breath and chest pain. He was diagnosed with a spontaneous pneumothorax (abnormal collection of air in the space between the thin layer of tissue that covers the lungs and the chest cavity). On examining Mark, he was noted to have tall stature, chest asymmetry, scoliosis (curvature of the spine), flat feet, stretch marks on his back , and reduced elbow extension. He did not have any family history of Inherited Cardiac Conditions (ICC).

Mark was under the care of the Respiratory (chest) team. In light of his features, they suspected a connective tissue disorder; a condition that affects parts responsible for connecting the structures of the body together. They wanted further advice to assess his eligibility for a referral to specialist services.

QGenome is a clinical decision aid designed to help clinicians in busy settings determine specialist referral eligibility and/or eligibility for genomic testing.  The overarching aim of the application is to provide families with shorter waiting times for a rare disease diagnosis and enable equity of “genomics care” for individuals across the UK, through standardised genomic testing and referral pathways.

The Respiratory clinician uses QGenome on their smartphone, which suggests that Mark should be referred to a specialised ICC service/Clinical Genetics for further assessment. The clinician makes a referral on Mark’s behalf by generating a pdf copy of his QGenome risk assessment in the app and emailing it together with Mark’s details to the ICC service/Clinical Genetics.

The ICC clinician and Clinical Geneticist review Mark in clinic. Cardiac (heart) investigations reveal normal aortic root diameter for his age and height. QGenome’s  ‘Aortopathy - Genomic testing workflow’ suggests there may be an inherited cause for his clinical features and highlights his eligibility for genomic testing via the ‘Thoracic aortic aneurysm or dissection’ gene panel.

The ICC clinician uses QGenome to access the key forms needed to request the test (Test request form) and obtain Mark’s consent (Record of discussion). QGenome also provides a pathway to help clinicians interpret and act on the outcome of the genetic test, whether the results are ‘positive’ , ‘negative’ , or of ‘uncertain significance’.

Mark’s genomic test results will show whether his features might be related to an underlying genetic disorder. This will have implications for his general management and cardiac screening. Additionally, a ‘positive’ genetic test result would have implications for his ‘at risk’ family members who also might be eligible for genetic testing, and potential screening.

QGenome’s cardiac genomics page focuses primarily on ICC and helps healthcare professionals differentiate between patients with likely sporadic cardiac disease and those with a possible genetic/hereditary susceptibility for ICC. Genomic testing and risk assessment pathways have been developed for familial hypercholesterolaemia, aortopathies, vascular Ehlers Danlos Syndrome (vEDS), long QT syndrome and sudden cardiac death (primary care risk assessment), amongst others.

The goal of QGenome is to help identify more individuals and families with ICC and improve their long-term management through quicker access to specialised services. Do you recall seeing a patient when you wondered about a potential ICC in the past? If so, download QGenome now to see how it could help you in your day-today clinical practice…