A History of Medical Genetics in Pediatrics

Rimoin, David L.; Hirschhorn, Kurt

doi:10.1203/01.pdr.0000129659.32875.84

Cited by 26 publications

(12 citation statements)

References 48 publications

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“…Currently, of all certified American Board of Medical Genetics and Genomics physicians, only 10% are certified in Internal Medicine with 67% certified in Pediatrics. [ 27 ] Early medical geneticists in the 1950s were primarily Internal Medicine trained but following the introduction of cytogenetic diagnostic techniques and the subsequent ability to provide diagnoses in childhood, the field transitioned to what it is today [ 28 ]. Recent work assessing the medical genetics workforce found adult patients with genetics conditions were a population significantly at risk of not receiving genetic services with approximately half of all adults with genetic conditions waiting more than 5 years for a diagnosis following symptom onset [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Lee

Uhlmann

Hipp

et al. 2020

Molecular Genetics and Metabolism Reports

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Traditionally thought of as a pediatric diagnostic and therapeutic dilemma, the diagnostic rate and spectrum of inborn errors of metabolism (IEM) in the adult population is largely unknown. A retrospective chart review of patients seen by the Michigan Medicine Adult Medical Genetics Clinic for clinical evaluation from 2014 to 2018 was conducted. Patients referred for a primary indication possibly consistent with an IEM were considered. Variables included age at genetic evaluation, symptom onset age, sex, clinical course, organ systems involved, developmental history, family history and prior genetic testing. Of patients evaluated during the study period, 112 were referred for an indication possibly consistent with an IEM and underwent a complete biochemical workup with an IEM diagnostic rate of 9.8% achieved. An additional 9.8% were diagnosed with a non-IEM genetic diagnosis. Management changes were implemented in all IEM diagnoses. Metabolic disorders in the adult population are under-recognized and under-diagnosed. This report demonstrates the need for clinicians to consider these diagnoses in adults and either refer to a genetics clinic or initiate a biochemical workup. As advances in diagnosis, treatment, and life expectancy of patients with IEMs increases, recognizing and diagnosing these conditions can significantly impact care.

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Section: Discussionmentioning

confidence: 99%

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Lee

Uhlmann

Hipp

et al. 2020

Molecular Genetics and Metabolism Reports

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“…The explosion of new knowledge in the areas of genomics, proteomics, and neuroscience has created new advances in diagnosis and therapy, and expanded the needs for better residency training in genetics. Medical genetics is particularly relevant to pediatricians, because it involves all aspects of fetal/childhood development and genetic assessment techniques that are inherent to pediatric care [15] (e.g. Newborn Screen, Karyotyping [16,17]).…”

Section: Introductionmentioning

confidence: 99%

Communicating genetic information: a difficult challenge for future pediatricians

2007

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BackgroundThe role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome). Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors.MethodsThree reviewers independently searched PubMed, OVID, and Medline databases to identify articles describing the challenges of communicating genetic information to patients, published from 1960 to December 2005. After the publications were identified and reviewed, four major areas of interest were identified in order to categorize the findings.ResultsTwenty-five publications were identified during the literature search. From the review, the following categories were selected to organize the findings: (1) Inherent difficulties of communicating and comprehending genetic information; (2) Comprehension of genetic information by pediatricians; (3) Genetics training in residency programs; and (4) The effect of genetic information on the future role of pediatricians and potential legal implications.ConclusionPediatricians and residents lack essential knowledge of genetics and communication skills for effective counseling of patients. The review indicated that successful communication of genetic information involves a number of important skills and considerations. It is likely that these skills and considerations are universally required for the communication of most complex specialized medical information. In the past, communication skills have not been considered a priority. Today, these skills have become a demanding professional and even legal obligation. However, the challenges involved in communicating complex medical information cannot be successfully addressed with universal, one-size-fits-all recommendations. Residency training programs require changes to adequately prepare future pediatricians for the growing challenge of communicating genetic information. Four important skills should be considered in the training of residents to improve the communication of complex information to patients. These skills are (1) discriminating, (2) understanding, (3) simplifying, and (4) explaining information.

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“…For example, there has been a proliferation of genetic tests that may be used in the identification of adult cancer risks (e.g., BRCA1 and BRCA2 mutations) (Willey & Cocilovo, 2007;Arsanious, Bjarnason, & Yousef, 2009) and likely response to chemotherapy and other treatment regimens (e.g., genetic tumor profiling) (Slodkowska & Ross, 2009). Yet, we are reminded that much of the history of genetics in medicine is focused on the health and well-being of children, adolescents, and their families (Rimoin & Hirschhorn, 2004). We are also reminded of the special considerations that must take place anytime that children and adolescents are involved in therapeutic and nontherapeutic clinical trials, and that this can impact the pace of discovery in pediatrics (Wendler & Forster, 2004).…”

Section: Genesmentioning

confidence: 99%

Handbook of Genomics and the Family

Tercyak¹

2010

Issues in Clinical Child Psychology

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except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.

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A History of Medical Genetics in Pediatrics

Cited by 26 publications

References 48 publications

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Communicating genetic information: a difficult challenge for future pediatricians

Handbook of Genomics and the Family

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