Genomic Medicine in Paediatrics
What Is Genomic Medicine in Paediatrics?
Genomic medicine in paediatrics uses information from a child’s DNA to help investigate health conditions, identify possible genetic causes, and guide clinical care. It can help clinicians understand why a condition has developed, assess the likelihood of related health problems, and make more informed decisions about diagnosis, monitoring, and management.
Unlike tests that examine a single gene, genomic testing can assess multiple genes or, where appropriate, much of a person’s genetic information. The most suitable approach depends on the child’s symptoms, medical history, and clinical assessment.
How Can Genomic Medicine Help Children?
Depending on the clinical situation, genomic assessment may help to:
- Support diagnosis: identify a genetic explanation for unexplained symptoms or developmental differences.
- Inform clinical care: help guide appropriate monitoring, specialist referrals, and management decisions.
- Clarify future health risks: identify genetic findings that may have implications for a child’s health over time.
- Inform family planning: help families understand whether a genetic condition could affect other relatives or future pregnancies.
Genomic testing does not provide a diagnosis in every case, and not all genetic findings have clear clinical implications. Results need to be interpreted alongside the child’s clinical features and family history.
At London Genetics, paediatric genomic assessment focuses on understanding each child’s clinical needs and considering how genetic information may contribute to diagnosis and personalised care.
When Might a Child Benefit from Genomic Assessment?
A clinician may consider genomic testing when a child has:
- Unexplained developmental delay: delays in speech, movement, learning, or multiple areas of development. A genetic diagnosis of developmental disorders may help identify an underlying cause when developmental concerns remain unexplained.
- Intellectual disability or neurological concerns: particularly when the cause is unclear or a genetic condition is suspected.
- Multiple congenital abnormalities: differences present from birth that may indicate an underlying genetic cause.
- Unexplained or suspected rare disease: symptoms affecting one or more organ systems without a confirmed diagnosis.
- A relevant family history: known inherited conditions, similar symptoms in relatives, or a history suggesting an increased likelihood of a genetic disorder.
- Unexplained serious illness in a newborn: where a genetic condition is suspected and rapid investigation may influence immediate clinical decisions.
Does Every Child Need Genetic Testing?
No. Genomic assessment is most useful when there is a clinical reason to investigate a possible genetic cause. A healthcare professional considers the child’s symptoms, examination findings, medical history, and family history before deciding whether testing is appropriate and which test may be most informative.
A genomic assessment does not always lead to a definitive diagnosis. However, when a genetic cause is identified, the result may help guide further investigations, clinical monitoring, and care planning.
What Childhood Health Concerns May Warrant Genetic Investigation?
Genetic investigation may be considered when a child's symptoms, developmental history or clinical findings suggest an underlying genetic condition. The concerns below are common reasons to consider assessment, although the need for testing depends on each child's individual circumstances.
| Health Concern | When Genetic Investigation May Help |
|---|---|
| Developmental Delay | When a child experiences unexplained delays in speech, movement, learning or several areas of development. |
| Intellectual Disability or Neurological Symptoms | When the cause is unclear, particularly if neurological findings or other clinical features suggest a genetic condition. |
| Autism Spectrum Disorder | When additional features, such as developmental delay, intellectual disability, congenital abnormalities or a relevant family history, indicate that genetic assessment may be appropriate. |
| Congenital Abnormalities | When one or more structural differences present at birth may indicate an underlying genetic cause. |
| Suspected Rare or Inherited Conditions | When symptoms are unusual, affect multiple organ systems, or suggest a recognised or previously undiagnosed genetic disorder. |
| Unexplained Serious Illness in Newborns | When a critically unwell newborn has features suggesting a genetic condition and rapid diagnosis could influence immediate clinical management. |
| Relevant Family History | When a known genetic condition, similar symptoms in relatives or a family history of inherited disease raises the possibility of a genetic diagnosis. |
Not every child with these concerns needs genomic testing. A clinical assessment helps determine whether genetic investigation is appropriate and which approach is most likely to provide useful information. Where a specific concern is identified, a more focused assessment may be helpful.
How Can a Genomic Diagnosis Influence a Child’s Care?
Identifying a genetic cause for a child’s health condition may help clinicians make more informed decisions about care. Although the benefits depend on the diagnosis and the child’s individual needs, genomic findings can provide information that supports treatment planning, health monitoring and discussions about the future.
Potential Benefits of a Genomic Diagnosis
- More targeted clinical management: help clinicians select appropriate interventions or avoid treatments that may be unsuitable for a particular genetic condition.
- Proactive health monitoring: identify associated health risks that may warrant additional screening or specialist follow-up.
- Fewer unnecessary investigations: provide an explanation for symptoms and help guide decisions about further diagnostic tests.
- Access to appropriate specialist care: support referrals to clinicians experienced in managing the identified condition.
- Better-informed family decisions: clarify whether a condition may be inherited and whether other relatives could benefit from genetic advice or testing.
A genomic diagnosis can also help families understand their child’s condition and connect with relevant support services. However, not every genetic finding changes treatment, and some conditions currently have limited condition-specific treatment options.
Genomic results should always be interpreted alongside a child’s symptoms, examination findings and medical history. The aim is to use relevant genetic information to support individualised care, rather than relying on test results alone.
Diagnostic Exome
Examines all protein-coding genes in the genome to identify genetic variants causing rare inherited disorders. This test is particularly useful for diagnosing complex or undiagnosed genetic conditions, offering insights into rare diseases.-
Examines all protein-coding genes in the entire human genome.
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Primary use is to identify genetic variants causing rare inherited disorders.
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Crucial for diagnosing complex or previously undiagnosed genetic conditions.
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Provides in-depth insights for obscure and rare diseases.
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Offers a comprehensive solution when targeted panel testing is inconclusive.
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Results are essential for final diagnosis and guiding management strategies.
Autism CGH Array
Uses comparative genomic hybridisation to detect chromosomal abnormalities, including deletions and duplications, associated with autism spectrum disorders. This test helps identify specific genetic causes of autism, aiding in diagnosis and treatment planning.-
Utilises Comparative Genomic Hybridisation (CGH) technology.
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Detects chromosomal abnormalities, including significant deletions and duplications.
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Specifically targets genetic causes associated with Autism Spectrum Disorders (ASD).
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Helps to identify specific genetic causes of a patient's autism.
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Crucial for aiding in definitive diagnosis and personalised treatment planning.
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Offers insights when single gene sequencing may be inconclusive.
Autism – Exome-based
Provides a comprehensive analysis of all protein-coding genes to identify mutations associated with autism spectrum disorders. This test offers a deeper understanding of the genetic factors contributing to autism, potentially leading to more targeted interventions.-
Provides a comprehensive analysis of all protein-coding genes (Exome).
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Specifically designed to identify single-gene mutations associated with Autism Spectrum Disorders (ASD).
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Offers a deeper understanding of the complex genetic factors contributing to autism.
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Results can potentially lead to more targeted and personalised interventions and management.
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Utilises NGS technology for high accuracy and sensitivity.
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Highly recommended when standard genetic testing yields inconclusive results.
Which Genomic Tests May Be Considered for Children?
The most appropriate genomic test for a child depends on their symptoms, medical history, family history and the condition being investigated. Some tests examine specific genes or chromosome changes, while others analyse many genes or broader portions of the genome.
| Test Type | What It Examines | When It May Be Considered |
|---|---|---|
| Single-Gene Testing | A specific gene suspected of causing a condition. | When the child's clinical features or family history strongly suggest a particular genetic disorder. |
| Gene Panel Testing | A selected group of genes associated with a particular condition or set of symptoms. | When several genes could explain the child's clinical presentation, such as certain neurological or inherited disorders. |
| Chromosomal Microarray | Small deletions or duplications of chromosomal material, known as copy number variants. | In selected cases involving developmental delay, intellectual disability, congenital abnormalities or other relevant clinical features. |
| Whole-Exome Sequencing (WES) | The exons, which are the protein-coding regions of most genes. | When a genetic condition is suspected but the responsible gene is not known, particularly in some unexplained developmental or multisystem conditions. |
| Whole-Genome Sequencing (WGS) | DNA across most of the genome, including coding and non-coding regions, with detection capabilities depending on the technology and analysis. | When broader genomic analysis may help investigate a suspected genetic condition or when other testing has not provided an explanation. |
| Rapid Genomic Testing | Genomic analysis performed through an accelerated pathway, often using exome or genome sequencing. | When a seriously unwell newborn or child requires a timely diagnosis that could influence urgent clinical decisions. |
There is no single genomic test that is suitable for every child. The choice depends on the clinical question, the types of genetic changes being investigated and the strengths and limitations of each method. In some cases, additional or follow-up testing may be needed.
How Is Paediatric Genomic Testing Planned and Performed?
A paediatric genomic assessment helps determine whether genetic testing may be appropriate for a child and how the findings could inform their care. The process is tailored to the child's symptoms, developmental history, medical needs and family circumstances.
1. Initial Assessment and Medical History
A specialist reviews the child's symptoms, development, previous investigations and medical history. Parents or carers can bring relevant medical records, specialist reports and previous genetic test results to support the assessment.
2. Family History and Clinical Context
The specialist discusses relevant family medical history, including inherited conditions and similar health concerns among relatives. This information may help clarify whether a genetic explanation should be investigated.
3. Test Selection and Informed Consent
Based on the clinical assessment, the specialist considers which genetic or genomic test, if any, is most appropriate. The potential benefits, limitations, uncertain findings and implications for family members are discussed before testing proceeds.
4. Sample Collection and Laboratory Analysis
If testing is recommended and agreed, a suitable biological sample, usually blood, is collected. Saliva or another sample may be appropriate for certain tests. The laboratory analyses the child's DNA using the selected method and its defined scope.
5. Interpretation of Results
Genetic findings are assessed in the context of the child's symptoms, medical history and available evidence. Results may identify a possible genetic explanation, reveal uncertain findings or fail to establish a diagnosis.
6. Results and Next Steps
The findings, their limitations and possible implications are discussed with the family. Depending on the outcome, next steps may include further investigations, clinical monitoring, specialist referral, testing of relatives or reconsideration of the results in the future.
Parents and carers should have the opportunity to ask questions and understand the available options before making a decision. Testing does not always provide a definitive diagnosis, and an assessment may conclude that testing is not currently appropriate.
What Can Genetic Test Results Tell You — and What Are Their Limitations?
Genetic test results can help explain a child's health condition, identify potential health risks or provide information relevant to family members. However, findings vary in their clinical significance, and some results may remain uncertain or fail to identify a genetic cause.
| Result Type | What It May Mean | Important Limitations |
|---|---|---|
| Diagnostic Finding | A genetic variant may explain the child's symptoms or confirm a suspected genetic condition. | The finding must fit the child's clinical features. It may not explain every symptom or predict the exact course of the condition. |
| Variant of Uncertain Significance (VUS) | A genetic change has been identified, but current evidence is insufficient to determine whether it causes disease. | It should not automatically be treated as the cause of the child's condition. Further evidence or later reclassification may clarify its significance. |
| No Diagnosis Identified | The test has not identified a genetic finding that explains the child's clinical presentation. | This does not rule out a genetic condition. Some variants may be difficult to detect or interpret, and current scientific knowledge is incomplete. |
| Secondary or Incidental Finding | Testing may identify a genetic change relevant to a health risk unrelated to the original reason for testing. | The implications depend on the finding, the child's circumstances and the applicable reporting and consent arrangements. |
| Inherited Finding | A result may provide information about how a condition was inherited and whether biological relatives could also be affected or carry the variant. | Inheritance patterns and individual health outcomes vary. Family testing or further genetic advice may be needed to clarify implications. |
A genetic test result is not a diagnosis in isolation. Its significance depends on the test performed, the evidence supporting the finding and the child's clinical presentation. A qualified healthcare professional can explain what the result means and whether further investigation, monitoring or follow-up may be appropriate.
What Happens If Genomic Testing Does Not Identify a Diagnosis?
Genomic testing does not always identify the genetic cause of a child’s symptoms. An inconclusive result does not necessarily mean that the condition is not genetic; some genetic changes may be difficult to detect, interpret or link to a specific health condition using current knowledge and testing methods.
What Happens After an Inconclusive Result?
Depending on the child’s clinical circumstances, the next steps may include:
- Reviewing the results: checking whether the findings fit the child’s symptoms, medical history and family history.
- Considering further investigations: exploring whether another type of genetic test or a non-genetic investigation could provide additional information.
- Reassessing the diagnosis: reviewing new symptoms, clinical findings or information that may help explain the condition.
- Revisiting the results: considering genetic test re-analysis when scientific knowledge or interpretation methods advance.
- Continuing clinical care: managing the child’s symptoms and arranging appropriate monitoring or specialist follow-up, even without a confirmed genetic diagnosis.
Can a Genetic Diagnosis Be Identified Later?
Yes. As research advances, some previously unexplained findings may become clinically interpretable. Reanalysis may identify a possible diagnosis that was not recognised when the original test was performed, although this is not guaranteed and depends on the available data and clinical context.
Families should discuss the significance of an inconclusive result and appropriate follow-up with their healthcare professional. Decisions about further testing or reanalysis should be based on the child’s needs, previous investigations and whether additional information is likely to be useful.
What Should Parents Consider Before Genomic Testing?
Before a child has genomic testing, parents and carers should understand why the test is being considered, what the results may reveal, and how the findings could affect their child's care and family. Discussing these points with a qualified healthcare professional can help families make informed decisions.
Why Is Testing Being Considered?
- Understand the clinical question the test aims to investigate and how the results might inform diagnosis or care.
- Ask why a particular test is recommended and whether alternative investigations may be appropriate.
- Discuss how the findings could influence treatment, monitoring or future clinical decisions.
What Might the Results Show?
- A result may identify a genetic explanation, reveal a finding of uncertain significance, or leave the cause of the child's symptoms unexplained.
- Some findings may have implications beyond the original reason for testing, depending on the test and its scope.
- Ask how results will be explained and whether further testing or follow-up might be needed.
Could the Findings Affect Relatives?
- Some results may provide information about inherited conditions or genetic risks for biological relatives.
- Consider whether parents or siblings might be offered additional testing or genetic counselling.
- Discuss possible implications for future family planning where relevant.
How Will Your Child’s Information Be Used?
- Understand the consent process, including how decisions are made when the child is too young to decide independently.
- Ask how genetic information and samples will be stored, accessed and protected, and whether data may be used for research.
- Consider your child's age, understanding and developing ability to participate in decisions about their care.
What Are the Potential Benefits and Limitations?
- Testing may help clarify a diagnosis or guide care, but it cannot guarantee an explanation or a change in treatment.
- Some findings may remain uncertain, and scientific understanding can change over time.
- Consider the possible emotional impact of the results and what support may be available to your family.
Make an Informed Decision
Parents and carers should have the opportunity to ask questions, understand the potential outcomes and discuss any concerns before proceeding. A paediatric genomic assessment can help clarify whether testing is appropriate for the child and what the available options may mean for their care and family.
Why Choose London Genetics for Paediatric Genomic Assessment?
Choosing the right support for your child’s genomic assessment means understanding their individual health needs, the available testing options and how genetic findings may influence clinical care. At London Genetics, the focus is on a personalised approach that considers each child’s symptoms, medical history and family circumstances.
A Personalised Approach to Paediatric Genomic Assessment
Every child presents with a different combination of clinical features and diagnostic questions. Assessment should therefore be tailored to the child rather than relying on a one-size-fits-all approach. Depending on the circumstances, this may involve considering an appropriate genomic test, reviewing previous investigations and interpreting potential findings in the context of the child’s clinical presentation.
Clear Guidance on Testing and Results
Genomic testing can provide valuable information, but results may also be uncertain or inconclusive. Understanding what a test can and cannot establish is an important part of the assessment process. Families should have the opportunity to discuss the potential benefits, limitations and implications of testing before making an informed decision.
Connecting Genetic Findings with Clinical Care
When a genetic diagnosis is identified, it may help inform clinical monitoring, specialist referrals and decisions about ongoing care. Results may also have implications for biological relatives. Their significance should be considered alongside the child’s symptoms, examination findings and wider medical history, with further investigations or follow-up considered where appropriate.
Supporting Informed Decisions for Your Family
Paediatric genomic assessment is not simply about obtaining a genetic test. It is about understanding the clinical question, considering the available options and explaining what the findings may mean for the child and their family. London Genetics aims to help families navigate these considerations with clear, individualised guidance.
If you are considering genomic assessment for your child, you can arrange a paediatric genomic consultation to discuss your concerns, relevant medical history and whether further genetic investigation may be appropriate.
Genomic Medicine in Paediatrics FAQs
What is genomic medicine in paediatrics?
Genomic medicine in paediatrics uses information from a child’s DNA to help investigate health conditions, identify possible genetic causes and inform clinical care. Depending on the circumstances, it may support diagnosis, guide health monitoring and help clinicians make more informed decisions about a child’s ongoing care.
When might a child need genomic testing?
Genomic testing may be considered when a child has unexplained developmental delay, intellectual disability, congenital abnormalities, suspected rare disease or other health concerns that may have a genetic cause. A relevant family history or unexplained serious illness in a newborn may also prompt investigation. Testing is considered according to the child’s clinical needs and is not necessary for every child with these concerns.
What types of genomic tests are available for children?
The options include single-gene testing, gene panels, chromosomal microarray, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Each test examines genetic information in a different way. The most appropriate option depends on the child’s symptoms, the suspected condition, previous investigations and the clinical question being addressed.
Is genomic testing painful for children?
Genomic testing usually involves analysing a biological sample, most commonly blood. Blood collection may cause brief discomfort, while some tests may use saliva or another suitable sample. The sampling method depends on the test requirements and the child’s circumstances.
How long does it take to receive genomic test results?
Turnaround times vary depending on the type of test, the laboratory, the complexity of the investigation and whether urgent analysis is required. Some tests may take several weeks, while more complex investigations can take longer. Your healthcare professional can explain the expected timeframe for the specific test being considered.
Can genomic testing provide a definitive diagnosis?
Sometimes. Testing may identify a genetic change that explains a child’s symptoms, but it does not always provide a definitive diagnosis. Results may be uncertain or inconclusive, and their significance must be assessed alongside the child’s clinical features, medical history and family history.
What happens if genomic testing does not identify a diagnosis?
An inconclusive result does not necessarily rule out a genetic condition. Depending on the circumstances, further investigations, a different type of test, continued clinical monitoring or reanalysis of existing genomic data may be considered. The appropriate next steps depend on the child’s needs and whether additional investigation is likely to provide useful information.
Can genomic testing help guide a child's treatment?
A genetic diagnosis may help clinicians select appropriate interventions, identify health risks that warrant monitoring or arrange relevant specialist care. However, not every genetic finding changes treatment, and some conditions have limited treatment options. Results should always be interpreted in the context of the child’s overall clinical picture.
Can my child's genetic results affect other family members?
Yes, in some cases. A result may indicate that a genetic condition was inherited or that biological relatives could have an increased chance of carrying the same genetic change. Depending on the finding, genetic counselling or testing for parents, siblings or other relatives may be appropriate.
Are there any risks or limitations to genomic testing?
Although genomic testing can provide valuable clinical information, it has limitations. It may not detect every relevant genetic change, and some findings may have uncertain significance. Testing may also reveal information about inherited risks or findings unrelated to the original reason for investigation. Before testing, families should discuss its potential benefits, limitations, privacy considerations and possible implications.
Should parents have genetic counselling before their child undergoes genomic testing?
Genetic counselling can help parents understand why testing is being considered, what the possible results may mean and how findings could affect their child and family. It also provides an opportunity to discuss uncertainty, consent, privacy and future implications before making an informed decision.
How can I arrange a paediatric genomic assessment with London Genetics?
If you have concerns about your child’s development, unexplained symptoms, suspected genetic condition or family history, you can contact London Genetics to discuss whether a paediatric genomic assessment may be appropriate. Having relevant medical records, previous test results and information about your family history available may help inform the discussion.
Arrange a Paediatric Genomic Consultation
If your child has unexplained symptoms, developmental concerns, a suspected genetic condition or a relevant family history, a paediatric genomic consultation can help you explore whether genetic investigation may be appropriate. London Genetics offers a personalised approach that considers your child's medical history, clinical needs and the questions your family would like to address.
What Can You Discuss During a Consultation?
Your Child's Health Concerns: Discuss your child's symptoms, developmental history, previous investigations and any concerns that may suggest an underlying genetic condition.
Suitable Genomic Testing Options: Explore whether genetic testing may be appropriate and which approaches could help investigate the clinical question, taking account of previous test results and available medical information.
Understanding Potential Results: Learn about the possible outcomes of genomic testing, including diagnostic findings, uncertain results and situations where testing may not identify a clear explanation.
Planning the Next Steps: Discuss how potential findings could inform further investigations, clinical monitoring, specialist care or genetic advice for family members.
Personalised Guidance for Your Family
Every child has individual clinical needs, and genomic testing is not always the most appropriate next step. A consultation provides an opportunity to review your concerns, consider the available options and understand the potential benefits and limitations before making an informed decision.
If available, bringing relevant medical records, previous genetic test results and information about your family history can help make the discussion more informative.
Take the Next Step Towards Understanding Your Child's Health
Contact London Genetics to discuss a paediatric genomic consultation and explore whether further genetic assessment may be appropriate for your child.
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This is really interesting! Could you clarify how long genomic test results typically take for paediatric cases and whether appointments are available for both newborns and older children?
Hi Harry, thanks for your question! Typically, genomic test results can take anywhere from 4 to 8 weeks depending on the complexity of the case. We offer consultations for children of all ages, from newborns to teenagers, so please don’t hesitate to get in touch to arrange an appointment.
Just read through your article the advancements in using genomic testing for developmental and rare disorders are truly cutting‑edge. It’s reassuring to know that families now have access to this level of tailored care in paediatric medicine right here in the UK
Thank you, Amelia. We completely agree genomic testing is transforming how we approach rare and developmental conditions in children. It’s very rewarding to provide families with more precise diagnoses and targeted care.
Absolutely fascinating insight into genomic medicine in paediatrics! It’s brilliant to see how personalised genetic analysis can lead to earlier diagnosis and bespoke treatments for children here in London. Well done to the team for redefining paediatric healthcare.
Thank you so much, Oliver! We’re thrilled to hear you found the article insightful. Our team is committed to bringing personalised genomic care to paediatric patients, and it’s wonderful to know our efforts are appreciated.
Brilliant service thank you for this info! One question: do you offer genetic counselling sessions that help families understand the implications of results, and is there support for siblings at risk as well?
Hello Sophie, absolutely — we provide comprehensive genetic counselling for families to understand the implications of any results. Support is also available for siblings at risk, ensuring the whole family feels guided throughout the process.