Genomics in Paediatrics

The number of ways in which genomics can be applied in paediatrics will only increase with time. Take a look at the diagram below to find out some of the ways in which genomics is already being used to improve paediatric patient outcomes.

Below are just a few examples of the ways in which paediatricians can play a part in the development of genomic medicine across the NHS.

Facilitating genomic testing

Many paediatricians have been ordering genomic tests and managing results for years. For others, genomic testing may be completely new. Whatever your background, now is a good time to develop your skills in this area because the landscape of genomics is changing rapidly. For example, the National Genomic Test Directory is currently expanding the number of genomic tests available, and increasing your understanding of the latest genomic technologies and available tests can help you identify more patients who could benefit from testing.

Seeking informed consent

Paediatricians are increasingly ordering more complex genomic tests. It is therefore important to have a good understanding of the potential implications of testing, so that informed consent can be sought. This should be documented as part of a record of discussion.

Understanding a genomic test report

Once you have requested a genomic test and it has been carried out, the results will be analysed by clinical scientists in the genomic laboratory and a report will be produced. The responsibility for interpreting the implications of the report and communicating them to the patient and their family will sit with you, as the clinician who requested the test – though support will be available from clinical genetics specialists, and there may be local multi-disciplinary team (MDT) meetings at which you can discuss the results. To learn more about reading, understanding and communicating genomic test reports, watch our video tutorial.

While some genomic test reports may be relatively simple, others can be more complex. For example, a variant of uncertain significance may have been identified – that is, a variant for which there is insufficient data to determine whether it is causative of or contributing towards the patient’s clinical presentation. Rarely, an incidental or secondary finding may be identified that describes a genomic variant that is causative of disease (for example, a cancer predisposition syndrome), but not of the patient’s clinical presentation. Most variants of uncertain significance require a referral to a clinical genetics team.

Watch this video to learn more about variants of uncertain significance.

Managing a genomic diagnosis

Genomic testing has become more important in the acute management of some patients. The availability of broader and more rapid tests means that rare diagnoses can be identified in a timely manner, often with significant management implications.

Genomic discoveries are also being made in children with chronic and complex conditions, providing answers for families and healthcare professionals and clarifying the need for surveillance or referrals to the wider MDT.

As genomics becomes more mainstream, paediatricians will be taking more of a leadership role in the continuity of care of children with genomic conditions.

Working with genomics specialists

Paediatricians and clinical geneticists work closely in the management of rare genomic conditions in children. A referral to clinical genetics is indicated in many cases: for instance, cases in which a genomic diagnosis is suspected but testing has not identified one, or where further information and family testing for a new genomic diagnosis is required. In addition, MDTs that include clinical geneticists and paediatricians are increasingly being established; these MDTs provide a forum to discuss management of a genomic diagnosis, the interpretation of a genomic result or the appropriateness of a potential referral.

Supporting research

All the advances in genomics that we are now witnessing result from research. Research continues to support these advances, and will result in new genomic applications that improve the lives of children. Paediatricians can support their patients to take part in research by, for example, giving patients who are undergoing whole genome sequencing the option to submit their anonymised data to the National Genomic Research Library.

• Antenatally, George was found to have an echogenic kidney (a kidney that appears bright in an ultrasound, indicating a possible condition). He was also born with an extra fifth digit (a condition known as polydactyly), and was consequently referred to the clinical genetics team.
• When George was reviewed by the clinical genetics team as a baby, results of microarray testing and a postnatal renal ultrasound scan were both normal.
• George was followed up by the clinical genetics team until the age of two. There were no further suspicions of a genetic disorder, so he was discharged back to paediatric care, where he was later managed for developing obesity and mild learning difficulties.
• Due to evolving genomic technologies, George was then recruited into a research study into early-onset obesity by his paediatrician.
• Two years later, the research study found two variants in George’s BBS5 gene, indicating a diagnosis of autosomal recessive Bardet-Biedl syndrome (BBS).
• As well as presenting a cause for George’s polydactyly, obesity and learning difficulties, this new diagnosis had important implications for his management and prognosis. Sadly, most individuals with BBS become blind by their second or third decade of life.
• George was referred back to the clinical genetics team for further support and counselling about the condition, while his paediatrician made clinical referrals to the ophthalmology, audiology, endocrinology and renal teams for surveillance of his syndromic manifestations.