ArticleJournal of genetic counseling2008
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.
Article in Journal of genetic counseling, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Stakeholders' perspectives on the post-mortem use of genetic and health-related data for research: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.BMC neurology · 2024Article
- Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations.European journal of human genetics : EJHG · 2024Article
- Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.Journal of personalized medicine · 2024Article
- Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.Frontiers in genetics · 2021Review
- Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.European journal of human genetics : EJHG · 2018Article
- Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Timing and context: important considerations in the return of genetic results to research participants.Journal of community genetics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study used in-depth interviews to explore the experiences of parents who were re-contacted with new genetic results many years after the death of a child with a mitochondrial disorder. At the time of their child's illness, parents had consented to a tissue sample being taken to help with diagnosis of a suspected mitochondrial disorder, and subsequently further DNA testing identified the genetic cause. Parents did not express negative feelings about being re-contacted with new information, and hoped that continuing research might help other families. Positive aspects included relief from feelings of guilt over the cause of the child's disorder, and having accurate genetic information available for surviving children. Difficult emotional and psychosocial implications included contradictions to previous beliefs about inheritance, deciding how and when to communicate information to surviving children, and coping with new fears for the mother's health if a gene located in the mitochondrial DNA was identified. In half of the families the new results significantly altered the parents' understanding of the inheritance pattern. This study highlights the impact of new genetic information offered after a delay of several years, which has the potential to re-open feelings of grief and uncertainty and can present a new inheritance scenario for which research participants or their families are unprepared. Health professionals involved in conveying genetic research results can help to support families through this process.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.