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Enhancing Parents' Experiences of Paediatric Genomic Testing in Usual Outpatient Care: Insights From a
Erin Crellin1,2, Melissa Martyn1,2,3, Selima Ymer4
1Genomics in Society, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Insights
Good genomic care involves a slow, multi-appointment approach for genomic testing, clear communication, and psychosocial support. Paediatricians play a key role, collaborating with genetic experts to support families through the process.
Area of Science:
- Genomic Medicine
- Paediatric Healthcare
- Qualitative Research
Background:
- Genomic testing is increasingly integrated into paediatric care.
- Understanding optimal delivery models for genomic care is essential.
- Paediatricians are central to delivering genomic services to children.
Purpose of the Study:
- To explore the components of high-quality genomic care delivered by paediatricians.
- To identify best practices for integrating genomic testing into paediatric outpatient settings.
- To gather insights from families and healthcare professionals on genomic care experiences.
Main Methods:
- Qualitative interpretive description study.
- Involved parents of children undergoing genomic testing (non-cancer related), paediatricians, nurses, and genetic counsellors.
- Data collected retrospectively and analyzed using inductive content analysis, with input from parent and paediatrician advisors.
Main Results:
- Key elements of good genomic care include a phased discussion of testing, clear expectation setting, provision of information and psychosocial support, and defined next steps.
- A collaborative, team-based approach involving paediatricians and genetic experts is crucial for sense-making.
- Paediatricians' established relationships with families are valuable assets in facilitating positive genomic care experiences.
Conclusions:
- Genomic testing can be effectively delivered within standard paediatric outpatient care.
- This research provides practical guidance for paediatricians to enhance genomic care delivery.
- Continuous evaluation of evolving care models is necessary to optimize genomic care for families.
Aim:
The aim of this research was to explore what makes (or would make) for good genomic care delivered wholly or in part by paediatricians.
Methods:
An interpretive description, qualitative study with parents of children offered genomic testing as an outpatient for a condition other than cancer; general and subspecialist paediatricians; nurses; and genetic counsellors. Data were primarily collected retrospectively and analysed using inductive content analysis. Interpretation was enriched by the involvement of parent and paediatrician project advisors.
Results:
Twenty-five parents and 20 health professionals participated. Most parents had received a genetic diagnosis for a child presenting with neurodevelopmental delay and/or epilepsy. Key aspects of good genomic care identified included: adopting a slow, multi-appointment approach to discussing genomic testing in certain instances; letting families know what to expect; signposting to information and psychosocial support services when disclosing results; communicating next steps; and adopting a team approach to aid sense-making. Paediatricians were not expected to do everything, with ongoing roles for genetic experts described. At different stages of the testing process, paediatricians existing and ongoing relationships with families were identified as an asset in helping promote good experiences.
Conclusion:
Genomic testing in usual paediatric outpatient care can be delivered well, with this research yielding practical guidance for paediatricians. Ongoing evaluation as models of care evolve will support the delivery of high-quality genomic care that best meets families' needs.
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