QGenome – Why, What and How?
Why?
The field of Genomics cuts across all aspects of healthcare and impacts individuals of all ages, from rare syndromes to common conditions, like cancer or diabetes.
Huge scientific advances have revolutionised how genomic technology and its clinical application can be used in disease prevention and treatment. Clinicians need quick user-friendly tools to help them navigate this rapidly evolving area, which is where QGenome enters the stage…
Primary Care
Public awareness of the importance of genetic risk in the development of disease is growing rapidly. Technological advances and the explosion of direct-to-consumer tests mean that access to genomic testing is more widely available. Although there are huge positives associated with this advancement, it can be difficult for patients and healthcare professionals to navigate this ever-expanding field.
QGenome is a readily accessible tool providing guidance for busy clinicians, quickly facilitating clinical decision-making and highlighting which patients need onward specialist referral for genomic investigations.
Download the app and visit the Primary Care guidance page in QGenome to find out more…
Cancer
Cancer is a common disease, affecting 1 in 2 individuals in the general UK population. Genomic technology can help identify people at higher risk of developing cancer, providing opportunities for prevention and early detection. Importantly, genomic tests can guide cancer treatment decisions enabling personalised management for specific patients, resulting in better outcomes [1].
The QGenome cancer pathways include referral, risk assessment and genomic testing guidance for breast, colorectal, endometrial, prostate, ovarian, renal, haematological, childhood cancers, sarcoma, and many other tumour types.
Download the app and visit the Cancer Genomics page in QGenome to find out more…
Cardiology
Genomic testing within the cardiac setting is crucial to identify patients who may be at risk of inherited cardiac conditions (ICCs) including arrhythmias, cardiomyopathies, aortopathies such as Marfan syndrome, muscular dystrophies and familial hypercholesterolaemia.
In the UK, recent health-policy initiatives have identified a need to improve and develop clinical services for ICCs, with a particular focus on the prevention of sudden cardiac death [2].
QGenome bridges the gap between primary care, clinical genetics and cardiology, providing clinicians with instant guidance to support the diagnosis and management of ICCs.
Download the app and visit the Cardiac Genomics page in QGenome to find out more…
Midwifery/prenatal setting
Genomics is fundamental to prenatal care, allowing prediction and preparation for situations in pregnancy to better protect and care for the parent and child. Midwives, nurses and primary care clinicians have an opportunity to embrace and embed genomics into practice; as leading care-givers for a large proportion of pregnant women or women hoping to become pregnant, being competent in genomics will enable them to meet the needs of patients within the context of current work streams and also in view of advancing technologies [4].
QGenome provides genomic guidance and information to increase the confidence of clinicians to act on potential referrals to genetics.
Download the app and visit the Prenatal Genomics page in QGenome to find out more…
Renal conditions
While genetic kidney diseases are individually rare, together they account for approximately 10% of kidney failure. Improved understanding of genetic kidney diseases, coupled with the reduced cost of sequencing, is making genetic testing in nephrology more common and holds promise to improve patient outcomes through improved prognostication, family screening, family planning, therapeutics, and transplant evaluation [3].
QGenome enables greater understanding of genomics within the renal community and workforce to facilitate this increased uptake in testing.
The Renal Genomics pathways are coming soon…
Neurology
Neurology is an incredibly heterogeneous medical speciality, with conditions including Epilepsy, Motor Neurone Disease, Charcot-Marie Tooth and Fragile-X Syndrome to name a few. Many neurological disorders are caused by single-gene mutations, referred to as Mendelian inheritance. As a result, genetic testing has become increasingly beneficial in this area, leading to improved diagnostic success rates and quicker access to specialist care.
For the neurologist, having a strong command of how to order appropriate genetic testing, as well as how to interpret the result is paramount for the diagnosis and treatment of these conditions [5].
QGenome will allow neurologists to facilitate genetic testing in a time-efficient way, reducing the diagnostic odyssey and ensuring their patients receive rapid genomically-driven clinical management.
The Neurology genomic pathways are entering the content development stage.
What?
QGenome offers clinicians readily-accessible, evidence-based clinical guidance and a streamlined mechanism to instigate genomic investigations and onward referrals, where necessary. It is freely available on iOS, Android and Web apps.
QGenome is a ‘point of care’ tool for any healthcare professional or multidisciplinary team who needs guidance navigating the role of genomic testing at various stages of the patient pathway. It enables busy clinicians to quickly distinguish between patients with sporadic disease and those with a potential genetic condition by highlighting the relevance of genomics at specific ‘decision points’ in their patient’s management.
QGenome is aligned to the NHSE genomic test directory, with quick links to genomic test request forms, record of discussion forms, national guidelines and published literature.
Content development has drawn on the expertise and input of specialist teams through iterative and collaborative workshops, ensuring QGenome supports the needs of the clinical community it serves.
How?
QGenome is funded through NHSE’s Genomic Medicine Service’s Transformation Programme. It is an expansion of Guy’s and St Thomas’ NHS Foundation Trust’s successful Cancer Genetics app, which launched in 2016 and was funded by Guy’s and St Thomas’ Charity. Existing users of the Cancer Genetics app can seamlessly transfer across to QGenome by simply updating the app on the AppleStore or GooglePlay.
QGenome is powered by the Clinibee platform. This platform enables clinicians to collaborate on the development of app content across geographic boundaries, ensures appropriate governance controls are in place and distributes published clinical guidance to healthcare professionals at the front line.
The design of QGenome is specifically architected to be sustainable and to accommodate future developments, including expansion to additional speciality areas and tailoring content or links to different regional needs as required.
So what are you waiting for? Use QGenome iOS, Android and Web apps now and start exploring how it can support your clinical practice and improve outcomes for your patients and their families.
QGenome - developed by clinicians for clinicians – giving you more answers in less time.
References
Rahman N. Mainstreaming genetic testing of cancer predisposition genes. Clin Med (Lond). 2014;14(4):436-439. doi:10.7861/clinmedicine.14-4-436
Burton, H., Alberg, C. and Stewart, A., 2010. Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK. Public Health Genomics, 13(4), pp.235-245.
Elliott MD, James LC, Simms EL, Sharma P, Girard LP, Cheema K, Elliott MJ, Lauzon JL, Chun J. Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease. Can J Kidney Health Dis. 2021 Oct 29;8:20543581211055001. doi: 10.1177/20543581211055001. PMID: 34733539; PMCID: PMC8558595.
Genetics in Nursing & Midwifery Task Group, Department of Health. Genetics/Genomics in Nursing and Midwifery (2011). Available at https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/215250/dh_131947.pdf
James P, O. and Murdock, D., 2019. Genetic Testing in Neuromuscular Disorders - Practical Neurology. [online] Practical Neurology. Available at: <https://practicalneurology.com/articles/2019-aug-july/genetic-testing-in-neuromuscular-disorders> [Accessed 10 June 2022].