Paeds · genetics-dysmorphology-and-metabolism
Ethical issues in genomic diagnosis and cascade testing
Also known as Ethics of paediatric genomic testing · Predictive and cascade genetic testing in minors · Secondary findings and the right not to know · Consent and disclosure in genomic medicine · The child's right to an open future
A fellowship approach to the ethics of genomic diagnosis and cascade testing in children: apply the AAP, ACMG, and ASHG framework that governs consent, predictive testing, secondary findings, and disclosure; defer predictive testing for adult-onset disease and carrier status to preserve the child's right to an open future; manage the ACMG secondary-findings list with genuine opt-in consent; and coordinate cascade testing of at-risk relatives while respecting confidentiality and the right not to know — because the genomic result belongs to the child, the family, and the future adult the child will become.
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Red flags
- A request to predictive-test a healthy child for an adult-onset condition (for example Huntington disease or hereditary breast and ovarian cancer) where there is no medical benefit in childhood — defer to the child's right to an open future and test at maturity
- Returning a medically actionable secondary finding without prior opt-in consent — the ACMG SF list is an opt-in framework, not a mandatory one
- Treating a variant of uncertain significance as if it were pathogenic and acting on it — a VUS must never drive management or cascade testing
- A family member being contacted for cascade testing without the proband's consent to share their identity — confidentiality of the proband governs how relatives are approached
- Disclosing a child's genetic result to parents, schools, or insurers without considering the future adolescent's own privacy and insurability
- Carrier testing a healthy prepubertal child for a recessive condition that carries no health benefit in childhood — defer to reproductive age
Life stages
Care settings
Clinical exam formats
Board mappings
- Consent for genomic testing in children
- Predictive, carrier and diagnostic testing distinctions
- Disclosure of variants of uncertain significance
- ACMG secondary findings policy and opt-in consent
- Cascade testing, confidentiality and the right not to know
- Ethics of rapid sequencing in the critically ill infant
- Counselling parents before and after a genomic test
- Discussing a variant of uncertain significance
- Coordinating cascade testing of at-risk relatives
- Long case of a family navigating a genomic diagnosis
- Discussing secondary findings, predictive testing and reproductive risk
- Safeguarding in genetic and genomic medicine
- Ethical and legal issues in genomics
- Communication of complex and uncertain results
- Ethics of genetic testing in children
- Secondary findings and informed consent
- The right to an open future and the right not to know
- Counselling a family on a genomic result and secondary findings
- Discussing uncertainty and cascade testing
- Ethics of genetic testing and screening in children
- Predictive testing and the mature minor
- Incidental findings and consent
- Bioethics of genomic medicine
- Confidentiality and the duty to warn at-risk relatives
- Ethical use of rapid genomic sequencing
- Canadian Paediatric Society guidance on genetic testing in children
- Secondary findings and cascade testing ethics
- Cultural safety in genomic counselling
The mark goes to the candidate who separates four conversations that parents, and sometimes clinicians, collapse into one. The first is diagnostic testing of a sick child, where the ethical balance favours testing because the result changes management now. The second is predictive or carrier testing of a healthy child, where the balance usually favours waiting, because the child gains nothing in childhood and loses the right to decide as an adult. The third is the secondary finding, an actionable variant unrelated to the reason for testing that is returned only if the family opted in. The fourth is cascade testing, the obligation and the mechanism for offering testing to at-risk relatives once a pathogenic variant is confirmed in the proband. The candidate who can name which of the four is on the table, and apply the right rule, will pass this topic. [1] [2]
Overview & Definition
Ethical issues in genomic diagnosis and cascade testing arise whenever sequencing a child produces information that affects more than one person, more than one point in time, or more than one health decision. A genomic result travels in three directions at once: it informs the child's own care today, it predicts disease in the future adult the child will become, and it implicates parents, siblings, and relatives who share the variant. Each direction carries its own ethical weight, and the clinician must weigh them explicitly rather than default to "test everything and report everything." [1] [3]
The 2015 ASHG and ACMG "Points to Consider" statement, led by Botkin, is the current consensus framework for paediatric genetic testing. It updates the original 1995 ASHG/ACMG document and sits alongside the joint AAP and ACMG policy statement and technical report from 2013. Together these documents establish that parents may consent to testing that benefits the child, but that they should generally defer testing whose only value is adult — whether that is knowing one will develop an adult-onset disease, or knowing one is a carrier for a recessive condition. The guiding concept is the child's right to an open future: keep the child's options open until the child can make the decision personally. [1] [2]
Cascade testing is the structured process of offering testing to at-risk relatives once a pathogenic variant is confirmed in the proband. It is one of the highest-value interventions in clinical genetics, because identifying an affected or carrier relative before symptoms appear can enable surveillance, prevention, or reproductive planning. But cascade testing collides with confidentiality — the proband's identity cannot be shared with relatives without consent — and with the right not to know, because some relatives do not wish to learn their status. The clinician's job is to offer cascade testing, document the proband's consent, and respect each relative's choice. [3] [4]
References10ShowHide
- [1]Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet, 2015.PMID 26140447
- [2]Committee on Bioethics, Committee on Genetics, and the American College of Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics, 2013.PMID 23428972
- [3]Ross LF, Saal HM, David KL, et al. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med, 2013.PMID 23429433
- [4]Ross LF. Predictive genetic testing of children and the role of the best interest standard. J Law Med Ethics, 2013.PMID 24446947
- [5]Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med, 2013.PMID 23788249
- [6]Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med, 2017.PMID 27854360
- [7]Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 2021.PMID 34012068
- [8]Bennette CS, Gallego CJ, Burke W, Jarvik GP, Veenstra DL. The cost-effectiveness of returning incidental findings from next-generation genomic sequencing. Genet Med, 2015.PMID 25394171
- [9]Smith LA, Douglas J, Braxton AA, Kramer K. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling. J Genet Couns, 2015.PMID 25403901
- [10]Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, et al. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. Ital J Pediatr, 2017.PMID 29100554