Genetic testing in neonates and children identifies chromosomal and inherited conditions at an early stage. It supports timely interventions, personalized treatment, and family counseling. Nurses play a vital role in education, sample collection, and guiding parents through results.
Introduction
The field of genetics has rapidly transformed paediatric healthcare, offering new ways to diagnose, manage, and even prevent a variety of childhood diseases. For nurses working with neonates and children, understanding genetic testing is increasingly vital. Genetic testing enables early detection of inherited disorders, guides personalised care plans, and supports families in making informed decisions.
Basics of Genetics
Understanding Genes, DNA, and Chromosomes
Genes are segments of DNA (deoxyribonucleic acid) that carry instructions for the body’s growth, development, and functioning. Each person inherits two copies of most genes—one from each parent. Chromosomes are long strands of DNA that contain many genes. Humans have 46 chromosomes, arranged in 23 pairs.
Patterns of Inheritance
Genetic conditions in children can result from different patterns of inheritance:
- Autosomal Dominant: A single altered gene copy from either parent can cause the disorder (e.g., Marfan syndrome).
- Autosomal Recessive: Both gene copies, one from each parent, must be altered for the child to be affected (e.g., cystic fibrosis, thalassaemia).
- X-linked Inheritance: The altered gene is located on the X chromosome, often affecting males more severely (e.g., haemophilia, Duchenne muscular dystrophy).
- Mitochondrial Inheritance: Genes are inherited exclusively from the mother via mitochondria (e.g., some metabolic disorders).
A basic understanding of these inheritance patterns helps nurses anticipate which families may be at risk and guide discussions about genetic testing.
Types of Genetic Tests in Neonates and Children
Screening vs. Diagnostic Genetic Tests
Genetic tests fall broadly into two categories:
- Screening Tests: Used to identify individuals at increased risk of a genetic disorder before symptoms appear. These tests are often performed on large groups, such as all newborns.
- Diagnostic Tests: Used to confirm or rule out a suspected genetic condition in a symptomatic individual or one with a positive screening result.
Common Genetic Tests in Paediatric Populations
- Newborn Screening: A public health programme that tests all newborns for a set of specific genetic, metabolic, and endocrine disorders. In India, conditions like congenital hypothyroidism, congenital adrenal hyperplasia, and G6PD deficiency are commonly screened.
- Chromosomal Analysis (Karyotyping): Used to detect large chromosomal abnormalities, such as Down syndrome (trisomy 21), Turner syndrome (monosomy X), or structural rearrangements.
- Fluorescence In Situ Hybridisation (FISH): A more targeted chromosomal test used to detect specific microdeletions or duplications, as seen in conditions like DiGeorge syndrome.
- Molecular Genetic Tests: These tests analyse specific genes for mutations using techniques such as PCR (polymerase chain reaction) and DNA sequencing. They are used for diagnosing single-gene disorders (e.g., sickle cell anaemia, thalassaemia, cystic fibrosis).
- Array Comparative Genomic Hybridisation (aCGH): A high-resolution technique to detect submicroscopic chromosomal changes not visible on karyotyping.
- Next-Generation Sequencing (NGS): Advanced technology enabling rapid sequencing of multiple genes, the whole exome, or even the entire genome. NGS is increasingly used for children with complex or undiagnosed conditions.
Indications for Genetic Testing in Paediatrics
Several clinical scenarios may warrant genetic testing in neonates and children. Nurses should be familiar with common indications, as early identification can significantly impact outcomes.
- Family History: A known family history of genetic disorders, unexplained infant deaths, or consanguinity (marriage between close relatives).
- Congenital Anomalies: Multiple birth defects or dysmorphic features suggestive of a genetic syndrome.
- Developmental Delays: Delayed milestones, intellectual disability, or autism spectrum disorders without a clear cause.
- Metabolic Disorders: Symptoms like vomiting, failure to thrive, seizures, or unusual odours that may suggest inborn errors of metabolism.
- Unexplained Illness: Chronic or recurrent health issues that do not respond to standard treatments.
- Positive Newborn Screening: Abnormal results on routine newborn screening tests.
- Pre-symptomatic Testing: In some cases, testing is offered to asymptomatic siblings or relatives at risk for late-onset disorders.
Prompt recognition and referral for genetic testing can lead to early diagnosis, timely interventions, and appropriate family counselling.
Genetic Testing Procedures
Sample Collection
The process of genetic testing begins with sample collection. Nurses are often responsible for ensuring that samples are collected, labelled, and transported according to protocol. Common sample types include:
- Blood: The most frequently used sample, especially for DNA extraction and metabolic screening.
- Buccal Swabs: Swabs from the inside of the cheek, used for DNA analysis when blood collection is not feasible.
- Urine: Sometimes used for metabolic screening.
- Skin Biopsy: Rarely, a small piece of skin may be required for chromosomal or metabolic studies.
Laboratory Methods
Once collected, samples undergo various laboratory processes depending on the type of test:
- Biochemical Testing: Assesses enzyme or protein activity (e.g., for metabolic disorders).
- Chromosomal Testing: Karyotyping or FISH to visualise chromosomes and detect structural changes.
- Molecular Testing: PCR, DNA sequencing, or NGS to analyse genetic material at the molecular level.
Nurses should understand the basic principles of these methods to answer questions from families and coordinate with laboratory staff.
Accuracy and Limitations
While genetic tests are highly informative, they are not infallible:
- Sensitivity and Specificity: No test is 100% accurate. False positives and false negatives can occur.
- Variants of Uncertain Significance (VUS): Sometimes, tests reveal genetic changes whose significance is not clear, leading to uncertainty.
- Incomplete Detection: Some mutations or disorders may not be detectable with current technology.
Nurses should communicate these limitations to families, helping them set realistic expectations and cope with uncertainty.
Interpretation of Genetic Test Results
Understanding Genetic Reports
Genetic test results are usually reported as:
- Positive: A pathogenic or likely pathogenic variant is identified, confirming a diagnosis.
- Negative: No abnormality detected; however, this does not always rule out a genetic disorder.
- Variant of Uncertain Significance (VUS): A change is found, but its impact on health is unclear.
Reports may also include information on inheritance, recurrence risk, and recommendations for family testing.
Communicating Results to Families
Nurses often act as intermediaries between laboratory staff, doctors, and families. Effective communication involves:
- Explaining results in simple, non-technical language.
- Addressing emotional responses, including anxiety, guilt, or relief.
- Clarifying the implications for the child’s health, prognosis, and future pregnancies.
- Facilitating referrals to genetic counsellors or specialists as needed.
Implications for Care
Interpretation of results directly influences patient care:
- Initiating early interventions or treatments for diagnosed conditions.
- Monitoring for complications or associated health issues.
- Educating families about condition management and prognosis.
- Coordinating multidisciplinary care involving paediatricians, geneticists, therapists, and social workers.
Nurses must ensure that families understand both the immediate and long-term implications of genetic testing outcomes.
Ethical, Legal, and Social Considerations in Paediatric Genetic Testing
Informed Consent
Obtaining informed consent is a foundational ethical principle. For children, parents or legal guardians provide consent, but assent from older children should be sought when appropriate. Nurses must ensure that families:
- Understand the purpose, risks, benefits, and limitations of testing.
- Are aware of possible outcomes, including unexpected findings.
- Know their right to refuse or withdraw consent at any stage.
Privacy and Confidentiality
Genetic information is highly sensitive. Nurses must protect privacy by:
- Ensuring secure storage and transmission of genetic data.
- Releasing results only to authorised individuals.
- Educating families about who will have access to results and for what purposes.
Potential Discrimination and Psychosocial Impact
Genetic test results can have social and psychological consequences:
- Risk of discrimination in employment or insurance (though legal protections exist in many jurisdictions).
- Stigma or altered family dynamics following a diagnosis.
- Emotional distress, guilt, or blame, especially in communities with strong cultural beliefs about genetics.
Nurses should be sensitive to these issues, offering support and making referrals to counselling services as needed.
The Role of Nurses in Genetic Testing
Patient Education
Nurses are responsible for educating families about genetic conditions, testing procedures, and possible outcomes. This includes:
- Providing clear, accurate information tailored to the family’s educational and cultural background.
- Using visual aids, pamphlets, or translated materials as needed.
- Encouraging questions and addressing misconceptions.
Advocacy and Support
Nurses advocate for the best interests of the child and family by:
- Ensuring access to appropriate genetic services, regardless of socioeconomic status.
- Protecting patient rights and promoting informed decision-making.
- Supporting families emotionally throughout the testing process, from sample collection to result disclosure.
Coordinating Care
Genetic testing often involves multiple healthcare professionals. Nurses coordinate care by:
- Liaising between doctors, laboratory staff, genetic counsellors, and families.
- Scheduling follow-up appointments and facilitating referrals.
- Tracking test results and ensuring timely communication.
Ongoing Professional Development
Given the rapid advances in genetics, nurses must pursue ongoing education to stay current with new testing methods, ethical guidelines, and best practices. Attending workshops, participating in online courses, and engaging with professional organisations are all valuable strategies.
Implications for Patient Care
Early Intervention and Improved Outcomes
Timely genetic testing enables early diagnosis and intervention, which can significantly improve outcomes for many conditions. For example, early treatment of congenital hypothyroidism can prevent intellectual disability, and dietary management of metabolic disorders can avert life-threatening crises.
Multidisciplinary Approach
Optimal care for children with genetic disorders often requires a team approach, including paediatricians, geneticists, nurses, dietitians, therapists, and social workers. Nurses play a central role in coordinating this care, ensuring seamless communication and holistic support.
Long-term Follow-up and Family Support
Many genetic conditions require lifelong management. Nurses support families by:
- Monitoring growth, development, and health status.
- Providing ongoing education about condition management and preventive care.
- Connecting families to support groups and community resources.
Challenges and Future Directions
Advances in Technology
Technological progress, such as next-generation sequencing, has made genetic testing faster, more affordable, and more comprehensive. However, interpreting complex results and integrating them into care remain challenges.
Barriers to Access
In India, access to genetic testing is limited by factors such as cost, geographical disparities, lack of awareness, and shortage of trained professionals. Nurses can help bridge these gaps by advocating for equitable access and educating communities.
Ongoing Education for Nurses
As genetic testing evolves, nurses must commit to lifelong learning. Integrating genetics into nursing curricula, attending continuing education programmes, and collaborating with genetic specialists will empower nurses to provide the best possible care.
REFERENCES
- Ramadas Nayak, Textbook of Pathology and Genetics for Nurses, 2nd Edition,2024, Jaypee Publishers, ISBN: 978-93-5270-031-8.
- Suresh Sharma, Textbook of Pharmacology, Pathology & Genetics for Nurses II, 2nd Edition, 31 August 2022, Jaypee Publishers, ISBN: 978-9354655692.
- Kumar, V., Abbas, A.K., & Aster, J.C. (2020). Robbins and Cotran Pathologic Basis of Disease. 10th Edition. Elsevier.
- McCance, K.L., & Huether, S.E. (2018). Pathophysiology: The Biologic Basis for Disease in Adults and Children. 8th Edition. Elsevier.
- Moore AM, Richer J. Genetic testing and screening in children. Paediatr Child Health. 2022 Jul 18;27(4):243-253. doi: 10.1093/pch/pxac028. PMID: 35859684; PMCID: PMC9291346.
- D’Gama AM, Agrawal PB. Genetic Testing in the Neonate. Clin Perinatol. 2025 Sep;52(3):575-588. doi: 10.1016/j.clp.2025.06.005. Epub 2025 Jul 16. PMID: 40850717.
- Genetic Testing in the NeonateD’Gama, Alissa M. et al.Clinics in Perinatology, Volume 52, Issue 3, 575 – 588, https://www.perinatology.theclinics.com/article/S0095-5108(25)00037-5/abstract
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