ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016
Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Williams-Beuren syndrome in diverse populations.American journal of medical genetics. Part A · 2018Pooled it
- Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.Orthodontics & craniofacial research · 2026Article
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.American journal of human genetics · 2026Article
- Representation of skin tone: The use of medical imagery in the genetic counseling profession.Journal of genetic counseling · 2025Article
- Incorporating multiracial and multiethnic experiences into genetic counseling practice and research: A necessary opportunity.Journal of genetic counseling · 2025Article
- Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.Journal of medical genetics · 2024Article
- Ethical and Legal Issues Surrounding Genetic Testing in the NICU.NeoReviews · 2024Article
- Privacy, bias and the clinical use of facial recognition technology: A survey of genetics professionals.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.Journal of perinatology : official journal of the California Perinatal Association · 2023Review
- Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.Pediatric research · 2023Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants.JAMA pediatrics · 2022Article
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2021Observational
- Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles.Journal of genetic counseling · 2021Article
- The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatric research · 2021Review
- Love in the time of COVID-19.American journal of medical genetics. Part A · 2020Article
- Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities.International journal of nephrology and renovascular disease · 2019Review
- Medical genetics and genomic medicine in Nigeria.Molecular genetics & genomic medicine · 2018Article
- Self-reported race and ethnicity of US biobank participants compared to the US Census.Journal of community genetics · 2017Article
- An electronic atlas of human malformation syndromes in diverse populations.Genetics in medicine : official journal of the American College of Medical 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
7 authors at 2 institutions in 1 country.
Funding
Abstract
An important gap exists in textbooks (or atlases) of dysmorphology used by health-care professionals to help diagnose genetic syndromes. The lack of varied phenotypic images in available atlases limits the utility of these atlases as diagnostic tools in globally diverse populations, causing geneticists difficulty in diagnosing conditions in individuals of different ancestral backgrounds who may present with variable morphological features. Proposals to address the underinclusion of images from diverse populations in existing atlases can take advantage of the Internet and digital photography to create new resources that take into account the broad global diversity of populations affected by genetic disease. Creating atlases that are more representative of the global population will expand resources available to care for diverse patients with these conditions, many of whom have been historically underserved by the medical system. However, such projects also raise ethical questions that are grounded in the complex intersection of imagery, medicine, history, and race and ethnicity. We consider here the benefits of producing such a resource while also considering ethical and practical concerns, and we offer recommendations for the ethical creation, structure, equitable use, and maintenance of a diverse morphological atlas for clinical diagnosis.Genet Med 18 11, 1069-1074.
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What OpenQuestion holds
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.