This area involves a range of technologies including gene sequencing, genome mapping and biomarker testing. Genetic testing is available for infants, children, and adults. It can be used for a range of conditions following referral from a GP, or funded privately and the tests can be used to diagnose a disease or condition in an individual or help with measuring the risk of developing a disease such as cancer.

Adults can undergo preconception testing before deciding to become pregnant, and prenatal testing can be performed during a pregnancy. Results of genetic tests can help physicians to select appropriate treatments for their patients. Currently there are 32 laboratories registered with the NHS UK Genetic Testing Network.

Contributing trends and developments

Better understanding of the genetic causes of common and rare diseases, particularly cardiovascular, metabolic, autoimmune disease and cancer, is leading to a greater number of conditions that can be screened for. 

The technology required to perform screening and sequencing is also becoming more widely available. New companies are offering genetic sequencing services to customers as the population becomes more aware and interested in the genetic component of their wellbeing.

Potential future situation

Given the accelerated interest in genetics, it is feasible that developments in technology and genomics will allow scientists in the future to screen for genetic disorders better. The genetic component of common conditions, such as type 2 diabetes and neural tube defects, become known and it is understood how particular genes may influence normal health and even longevity, enabling scientists to potentially improve health through genetic engineering.

Developments in genomics may have far-reaching effects on the understanding and prediction of the risk of disease, patient diagnosis and treatment, resulting in personalised pharmaceutical goods and services profiled to the genetic make-up of individuals.

Proposed workforce impact

Traditional models of care change as patients are screened and provided with care plans according to their genetic predispositions. This form of prevention could produce a much healthier population, requiring less medical attention.

Pharmacists will increasingly assume more specialised roles, dealing with more challenging and complex medications for service users. Collaborative working across healthcare professions will be extended to involve the use of pharmacogenomics in epidemiology and outbreak investigations.

Being able to identify genetic disorders also raises ethical and legislative problems. For example if a progressive, adult-onset genetic disorder or mutation is discovered, that cannot be cured (for example Huntingdon’s) what does this mean for health insurance for the individual? Does the healthcare workforce require new skills to help with family planning and other life choices facing the individual?

Sources or references

Khoury et al. 2003, Population screening in the age of genomic medicine http://www.nejm.org/doi/full/10.1056/NEJMra013182

Genetics – Genetic Testing and counselling (Accessed 17/11/14) http://www.nhs.uk/Conditions/Genetics/Pages/genetic-testing-and-counselling.aspx

NHS UK Genetic Testing Network http://ukgtn.nhs.uk/find-a-test/search-by-laboratory/#c3587

NHS choices http://www.nhs.uk/conditions/genetics/pages/genetic-testing-and-counselling.aspx

Kings Fund ‘Future Drivers: Medical Advances’ http://www.kingsfund.org.uk/time-to-think-differently/trends/medical-advances

Norrgard, K. (2008) Ethics of genetic testing: medical insurance and genetic discrimination. Nature Education 1(1):90http://www.nature.com/scitable/topicpage/ethics-of-genetic-testing-medical-insurance-and-651

Some of the information in this section is provided by stakeholders and expert groups, and does not necessarily represent the views of the CfWI.