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  1. Article ; Online: Professional medical education and genomics.

    Demmer, Laurie A / Waggoner, Darrel J

    Annual review of genomics and human genetics

    2014  Volume 15, Page(s) 507–516

    Abstract: Genomic medicine is a relatively new concept that involves using individual patients' genomic results in their clinical care. Genetic technology has advanced swiftly over the past decade, and most providers have been left behind without an understanding ... ...

    Abstract Genomic medicine is a relatively new concept that involves using individual patients' genomic results in their clinical care. Genetic technology has advanced swiftly over the past decade, and most providers have been left behind without an understanding of this complex field. To realize its full potential, genomic medicine must be both understood and accepted by the greater medical community. The current state of professional medical education in genomics and genomic medicine is reviewed, including ongoing plans to expand educational efforts for medical students, clinical geneticists, and nongeneticist physicians.
    MeSH term(s) Education, Medical ; Genetic Testing ; Genetics, Medical/education ; Genomics/education ; Humans ; Physicians ; Precision Medicine/methods
    Language English
    Publishing date 2014
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-090413-025522
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  2. Article ; Online: Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.

    Swartwood, Shanna M / Morales, Ana / Hatchell, Kathryn E / Moretz, Chad / McKnight, Dianalee / Demmer, Laurie / Chagnon, Sarah / Aradhya, Swaroop / Esplin, Edward D / Bonkowsky, Joshua L

    Epilepsia open

    2023  Volume 9, Issue 1, Page(s) 439–444

    Abstract: The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthcare-related ... ...

    Abstract The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthcare-related cost expenditures of pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis through multigene epilepsy panel (MEP) testing and comparing those who underwent early (EGT) versus late genetic testing (LGT). Testing was defined as early (less than 1 year), or late (more than 1 year), following clinical epilepsy diagnosis. A retrospective chart review of pediatric individuals (1-17 years) with epilepsy of unknown etiology who underwent multigene epilepsy panel (MEP) testing identified 28 of 226 (12%) individuals with a pathogenic epilepsy variant [EGT n = 8 (29%); LGT n = 20 (71%)]. The average time from clinical epilepsy diagnosis to genetic diagnosis was 0.25 years (EGT), compared with 7.1 years (LGT). The EGT cohort underwent fewer metabolic tests [EGT n = 0 (0%); LGT n = 16 (80%) (P < 0.01)] and invasive procedures [EGT n = 0 (0%); LGT n = 5 (25%) (P = 0.06)]. Clinical management changes implemented due to genetic diagnosis occurred in 10 (36%) patients [EGT n = 2 (25%); LGT n = 8 (40%) (P = 0.76)]. Early genetic testing with a MEP in pediatric patients with epilepsy of unknown etiology who receive a genetic diagnosis is associated with fewer non-diagnostic tests and invasive procedures and reduced estimated overall healthcare-related costs. PLAIN LANGUAGE SUMMARY: This study aims to investigate whether a difference exists in the diagnostic evaluation and cost expenditures of pediatric patients (1-17 years) with epilepsy of unknown cause who are ultimately diagnosed with a genetic cause of epilepsy through multigene epilepsy panel testing and comparing those who underwent early testing (less than 1 year) versus late testing (more than 1 year) after clinical epilepsy diagnosis. Of the 28 of 226 individuals with a confirmed genetic cause of epilepsy on multigene epilepsy panel testing, performing early testing was associated with fewer non-diagnostic tests, fewer invasive procedures and reduced estimated overall healthcare-related costs.
    MeSH term(s) Humans ; Child ; Retrospective Studies ; Genetic Testing/methods ; Epilepsy/diagnosis ; Epilepsy/genetics ; Epilepsy/complications
    Language English
    Publishing date 2023-12-16
    Publishing country United States
    Document type Journal Article
    ISSN 2470-9239
    ISSN (online) 2470-9239
    DOI 10.1002/epi4.12878
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  3. Article ; Online: Keratoconus in Costello syndrome.

    Gripp, Karen W / Demmer, Laurie A

    American journal of medical genetics. Part A

    2013  Volume 161A, Issue 5, Page(s) 1132–1136

    Abstract: Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general ... ...

    Abstract Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24-year-old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently.
    MeSH term(s) Adult ; Cornea/pathology ; Costello Syndrome/complications ; Edema/complications ; Edema/etiology ; Edema/therapy ; Humans ; Keratoconus/complications ; Keratoconus/therapy ; Male ; Young Adult
    Language English
    Publishing date 2013-03-13
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.35816
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  4. Article ; Online: An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

    Baker, Elizabeth / Weaver, Donald / Massengill, Susan / Mittag, Dana / Juusola, Jane / Demmer, Laurie

    Pediatric nephrology (Berlin, Germany)

    2019  Volume 34, Issue 11, Page(s) 2327–2329

    MeSH term(s) Carrier Proteins/genetics ; Chromosomes, Human, X/genetics ; Failure to Thrive/complications ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Fatal Outcome ; Genetic Testing/methods ; Hernia, Hiatal/diagnosis ; Hernia, Hiatal/genetics ; Humans ; Infant ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Nephrosis/diagnosis ; Nephrosis/genetics ; Nephrotic Syndrome/complications ; Nephrotic Syndrome/diagnosis ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/therapy ; RNA Splice Sites/genetics ; Whole Exome Sequencing
    Chemical Substances Carrier Proteins ; LAGE3 protein, human ; RNA Splice Sites
    Language English
    Publishing date 2019-05-08
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-019-04261-3
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  5. Article ; Online: An unusual case of nephrotic syndrome in a microcephalic infant: Questions.

    Baker, Elizabeth / Weaver, Donald / Massengill, Susan / Mittag, Dana / Juusola, Jane / Demmer, Laurie

    Pediatric nephrology (Berlin, Germany)

    2019  Volume 34, Issue 11, Page(s) 2325–2326

    MeSH term(s) Chromosome Deletion ; Chromosomes, Human, Pair 14/genetics ; Chromosomes, Human, Pair 8/genetics ; Failure to Thrive/complications ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Fatal Outcome ; Genetic Testing ; Humans ; Infant ; Male ; Microcephaly/complications ; Microcephaly/diagnosis ; Microcephaly/genetics ; Nephrotic Syndrome/complications ; Nephrotic Syndrome/diagnosis ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/therapy
    Language English
    Publishing date 2019-05-08
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-019-04260-4
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  6. Article: Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

    Geiculescu, Irina / Saxonhouse, Matthew A. / Demmer, Laurie / Sutsko, Ronald / Cosper, Graham / Jones, James E.

    Journal of Pediatric Genetics

    2021  

    Abstract: Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings ... ...

    Abstract Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings with this diagnosis have been reported but never twins. In this article, we provided a review and discussion of this syndrome following its presentation in monochorionic, diamnionic twin females.
    Keywords Matthew-Wood syndrome ; twins
    Language English
    Publishing date 2021-11-09
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0041-1739386
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  7. Article ; Online: Surveying the current landscape of clinical genetics residency training.

    Bupp, Caleb P / Demmer, Laurie A / Saul, Robert A

    Genetics in medicine : official journal of the American College of Medical Genetics

    2014  Volume 17, Issue 5, Page(s) 386–390

    Abstract: Purpose: Further knowledge about medical genetics residency training structure and function could help advance this educational process.: Methods: Medical genetics residency program directors were surveyed about their trainees' backgrounds and skills ...

    Abstract Purpose: Further knowledge about medical genetics residency training structure and function could help advance this educational process.
    Methods: Medical genetics residency program directors were surveyed about their trainees' backgrounds and skills as well as the recruitment and matching process.
    Results: Previous resident training was predominantly in pediatrics (49%). Average ratings of residents' beginning clinical knowledge (scale of 1-10, minimal to superior) were: dysmorphology - 3.5, inborn errors of metabolism - 2.5, prenatal genetics - 2.6, and cancer genetics - 2.8. On average, four months of research were required for categorical residency and fifteen months for combined residency. For the 2011 transition to ERAS/NRMP, 69% of program directors were extremely or somewhat prepared; however, 21% felt unprepared. The number of trainees at most institutions remained unchanged. 36% of respondents reported that ERAS/NRMP has had no impact on recruitment of trainees, and 26% felt it has had a slightly positive impact. Continued utilization was recommended by 71% while 5% disagreed.
    Conclusion: Genetics residents come from diverse training backgrounds. Their education can be directed toward specific areas of perceived initial weakness. ERAS/NRMP has not drastically increased entrance into the field. Further discussions are merited regarding enhancement of medical genetics residency recruitment and training.
    MeSH term(s) Canada ; Clinical Competence ; Genetics, Medical/education ; Humans ; Internship and Residency ; Surveys and Questionnaires ; Time Factors
    Language English
    Publishing date 2014-09-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2014.108
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  8. Article ; Online: Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

    Korf, Bruce R / Blitzer, Miriam G / Demmer, Laurie A / Feldman, Gerald L / Watson, Michael S

    Genetics in medicine : official journal of the American College of Medical Genetics

    2017  Volume 19, Issue 9

    MeSH term(s) Genetics, Medical/education ; Genetics, Medical/methods ; Genetics, Medical/organization & administration ; Genetics, Medical/standards ; Genome ; Genomics/education ; Genomics/methods ; Genomics/organization & administration ; Genomics/standards ; Guidelines as Topic ; Humans
    Language English
    Publishing date 2017-04-27
    Publishing country United States
    Document type Congress ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2017.38
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  9. Article ; Online: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

    Manickam, Kandamurugu / McClain, Monica R / Demmer, Laurie A / Biswas, Sawona / Kearney, Hutton M / Malinowski, Jennifer / Massingham, Lauren J / Miller, Danny / Yu, Timothy W / Hisama, Fuki M

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 23, Issue 11, Page(s) 2029–2037

    Abstract: Purpose: To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) ... ...

    Abstract Purpose: To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.
    Methods: The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.
    Results: The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.
    Conclusion: We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.
    MeSH term(s) Child ; Exome/genetics ; Genetics, Medical ; Genomics ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Practice Guidelines as Topic ; United States ; Whole Exome Sequencing
    Language English
    Publishing date 2021-07-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-021-01242-6
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  10. Article: Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions.

    Dotters-Katz, Sarah / Hocutt, Ginger / Osborne, C Michael / Hardisty, Emily E / Demmer, Laurie / Vora, Neeta

    AJP reports

    2016  Volume 6, Issue 4, Page(s) e372–e377

    Abstract: ... ...

    Abstract Objective
    Language English
    Publishing date 2016-10-01
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2628074-7
    ISSN 2157-7005 ; 2157-6998
    ISSN (online) 2157-7005
    ISSN 2157-6998
    DOI 10.1055/s-0036-1593831
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