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Article ; Online: Addressing the Burdens That Newborn Screening Imposes on Underserved Communities.

Strenk, Meghan E / Berrios, Courtney / Garrett, Jeremy R

The American journal of bioethics : AJOB

2023 Volume 23, Issue 7, Page(s) 79–82

MeSH term(s)	Infant, Newborn ; Humans ; Neonatal Screening ; Rare Diseases ; Health Services Accessibility ; Social Justice
Language	English
Publishing date	2023-06-20
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	2060433-6
ISSN	1536-0075 ; 1526-5161
ISSN (online)	1536-0075
ISSN	1526-5161
DOI	10.1080/15265161.2023.2207542
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Article ; Online: Insurance denials and diagnostic rates in a pediatric genomic research cohort.

Zion, Tricia N / Berrios, Courtney D / Cohen, Ana S A / Bartik, Lauren / Cross, Laura A / Engleman, Kendra L / Fleming, Emily A / Gadea, Randi N / Hughes, Susan S / Jenkins, Janda L / Kussmann, Jennifer / Lawson, Caitlin / Schwager, Caitlin / Strenk, Meghan E / Welsh, Holly / Rush, Eric T / Amudhavalli, Shivarajan M / Sullivan, Bonnie R / Zhou, Dihong /

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

2023 Volume 25, Issue 5, Page(s) 100020

Abstract: Purpose: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials.: Methods: Analysis ...

Abstract	Purpose: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials. Methods: Analysis consisted of review of insurance denials in 801 patients enrolled in a pediatric genomic research repository with either no previous genetic testing or previous negative genetic testing result identified through cross-referencing with insurance prior-authorizations in patient medical records. Patients and denials were also categorized by type of insurance coverage. Diagnostic findings and candidate genetic findings in these groups were determined through review of our internal variant database and patient charts. Results: Of the 801 patients analyzed, 147 had insurance prior-authorization denials on record (18.3%). Exome sequencing and microarray were the most frequently denied genetic tests. Private insurance was significantly more likely to deny testing than public insurance (odds ratio = 2.03 [95% CI = 1.38-2.99] P = .0003). Of the 147 patients with insurance denials, 53.7% had at least 1 diagnostic or candidate finding and 10.9% specifically had a clinically diagnostic finding. Fifty percent of patients with clinically diagnostic results had immediate medical management changes (5.4% of all patients experiencing denials). Conclusion: Many patients face a major barrier to genetic testing in the form of lack of insurance coverage. A number of these patients have clinically diagnostic findings with medical management implications that would not have been identified without access to research testing. These findings support re-evaluation of insurance carriers' coverage policies.
MeSH term(s)	Child ; Humans ; Insurance Coverage ; Genomics
Language	English
Publishing date	2023-01-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.100020
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Article: Importance of cell wall mannoproteins for septum formation in Saccharomyces cerevisiae.

Schmidt, Martin / Strenk, Meghan E / Boyer, Michael P / Fritsch, Bryan J

Yeast (Chichester, England)

2005 Volume 22, Issue 9, Page(s) 715–723

Abstract: The mannosyltransferase mutants mnn9 and mnn10 were isolated in a genetic screen for septation defects in Saccharomyces cerevisiae. Ultrastructural examination of mutant cell walls revealed markedly thin septal structures and occasional failure to ... ...

Abstract	The mannosyltransferase mutants mnn9 and mnn10 were isolated in a genetic screen for septation defects in Saccharomyces cerevisiae. Ultrastructural examination of mutant cell walls revealed markedly thin septal structures and occasional failure to construct trilaminar septa, which then led to the formation of bulky default septa at the bud neck. In the absence of a functional septation apparatus, mnn10 mutants are unable to complete cytokinesis and die as cell chains with incompletely separated cytoplasms, indicating that mannosylation defects impair the ability to form remedial septa. We could not detect N-linked glycosylation of the beta(1,3)glucan synthase Fks1p and mnn10 defects do not change the molecular weight or abundance of the protein. We discuss a model explaining the pleiotropic effects of impaired N-linked protein glycosylation on septation in S. cerevisiae.
MeSH term(s)	Cell Aggregation/physiology ; Cell Division/physiology ; Cell Wall/enzymology ; Cell Wall/physiology ; Cell Wall/ultrastructure ; Chitin Synthase/physiology ; Cytokinesis/physiology ; Echinocandins ; Fungal Proteins/physiology ; Glucosyltransferases/physiology ; Glycosylation ; Mannosyltransferases/genetics ; Mannosyltransferases/isolation & purification ; Mannosyltransferases/physiology ; Membrane Glycoproteins/physiology ; Membrane Proteins/physiology ; Microscopy, Electron ; Microscopy, Phase-Contrast ; Mutagenesis, Insertional ; Saccharomyces cerevisiae/enzymology ; Saccharomyces cerevisiae/growth & development ; Saccharomyces cerevisiae/ultrastructure ; Saccharomyces cerevisiae Proteins/physiology
Chemical Substances	Echinocandins ; Fungal Proteins ; Membrane Glycoproteins ; Membrane Proteins ; Saccharomyces cerevisiae Proteins ; mannoproteins ; Glucosyltransferases (EC 2.4.1.-) ; Mannosyltransferases (EC 2.4.1.-) ; Chitin Synthase (EC 2.4.1.16) ; chitin synthase 2 (EC 2.4.1.16) ; FKS1 protein, S cerevisiae (EC 2.4.1.34)
Language	English
Publishing date	2005-07-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632636-5
ISSN	1097-0061 ; 0749-503X
ISSN (online)	1097-0061
ISSN	0749-503X
DOI	10.1002/yea.1242
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Article: Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Dinwiddie, Darrell L / Smith, Laurie D / Miller, Neil A / Atherton, Andrea M / Farrow, Emily G / Strenk, Meghan E / Soden, Sarah E / Saunders, Carol J / Kingsmore, Stephen F

Genomics. 2013 Sept., v. 102, no. 3

2013

Abstract: Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively ...

Abstract	Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations.
Keywords	coenzyme Q10 ; genes ; heterozygosity ; high-throughput nucleotide sequencing ; loci ; mitochondrial DNA ; mutation ; patients ; siblings
Language	English
Dates of publication	2013-09
Size	p. 148-156.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	356334-0
ISSN	1089-8646 ; 0888-7543
ISSN (online)	1089-8646
ISSN	0888-7543
DOI	10.1016/j.ygeno.2013.04.013
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller, Marcus J / Burrage, Lindsay C / Gibson, James B / Strenk, Meghan E / Lose, Edward J / Bick, David P / Elsea, Sarah H / Sutton, V Reid / Sun, Qin / Graham, Brett H / Craigen, William J / Zhang, Victor Wei / Wong, Lee-Jun C

Molecular genetics and metabolism

2015 Volume 116, Issue 3, Page(s) 139–145

Abstract: Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up molecular analyses are often required to clarify VLCADD-suggestive NBS results, but ... ...

Abstract	Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up molecular analyses are often required to clarify VLCADD-suggestive NBS results, but to date the outcome of these studies are not well described for the general screen-positive population. In the following study, we report the molecular findings for 693 unrelated patients that sequentially received Sanger sequence analysis of ACADVL as a result of a positive NBS for VLCADD. Highlighting the variable molecular underpinnings of this disorder, we identified 94 different pathogenic ACADVL variants (40 novel), as well as 134 variants of unknown clinical significance (VUSs). Evidence for the pathogenicity of a subset of recurrent VUSs was provided using multiple in silico analyses. Surprisingly, the most frequent finding in our cohort was carrier status, 57% all individuals had a single pathogenic variant or VUS. This result was further supported by follow-up array and/or acylcarnitine analysis that failed to provide evidence of a second pathogenic allele. Notably, exon-targeted array analysis of 131 individuals screen positive for VLCADD failed to identify copy number changes in ACADVL thus suggesting this test has a low yield in the setting of NBS follow-up. While no genotype was common, the c.848T>C (p.V283A) pathogenic variant was clearly the most frequent; at least one copy was found in ~10% of all individuals with a positive NBS. Clinical and biochemical data for seven unrelated patients homozygous for the p.V283A allele suggests that it results in a mild phenotype that responds well to standard treatment, but hypoglycemia can occur. Collectively, our data illustrate the molecular heterogeneity of VLCADD and provide novel insight into the outcomes of NBS for this disorder.
MeSH term(s)	Acyl-CoA Dehydrogenase, Long-Chain/deficiency ; Acyl-CoA Dehydrogenase, Long-Chain/genetics ; Alleles ; Carnitine/analogs & derivatives ; Computer Simulation ; Exons ; Female ; Genetic Carrier Screening ; Genotype ; Humans ; Hypoglycemia/etiology ; Infant, Newborn ; Lipid Metabolism, Inborn Errors/diagnosis ; Lipid Metabolism, Inborn Errors/genetics ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Mutation, Missense ; Neonatal Screening ; Oligonucleotide Array Sequence Analysis ; Sequence Analysis, DNA ; Tandem Mass Spectrometry ; United States
Chemical Substances	acylcarnitine ; Acyl-CoA Dehydrogenase, Long-Chain (EC 1.3.8.8) ; Carnitine (S7UI8SM58A)
Language	English
Publishing date	2015-11
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2015.08.011
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Article ; Online: Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Dinwiddie, Darrell L / Smith, Laurie D / Miller, Neil A / Atherton, Andrea M / Farrow, Emily G / Strenk, Meghan E / Soden, Sarah E / Saunders, Carol J / Kingsmore, Stephen F

Genomics

2013 Volume 102, Issue 3, Page(s) 148–156

Abstract	Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations.
MeSH term(s)	Ataxia/diagnosis ; Ataxia/genetics ; Child, Preschool ; Electron Transport Complex I/deficiency ; Electron Transport Complex I/genetics ; Exome ; Female ; Genetic Variation ; Genome, Mitochondrial ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Infant, Newborn ; Leigh Disease/diagnosis ; Leigh Disease/genetics ; Mitochondria/genetics ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Molecular Diagnostic Techniques ; Muscle Weakness/diagnosis ; Muscle Weakness/genetics ; Pedigree ; Sequence Analysis, DNA ; Sequence Analysis, RNA ; Ubiquinone/deficiency ; Ubiquinone/genetics
Chemical Substances	Ubiquinone (1339-63-5) ; Electron Transport Complex I (EC 7.1.1.2)
Language	English
Publishing date	2013-04-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	356334-0
ISSN	1089-8646 ; 0888-7543
ISSN (online)	1089-8646
ISSN	0888-7543
DOI	10.1016/j.ygeno.2013.04.013
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Article ; Online: Ashkenazi Jewish genetic disease carrier screening.

Begleiter, Michael L / Buchholz, Janda L / Atherton, Andrea M / Mays, Lee Z / Lund, Molly M / Strenk, Meghan E

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

2008 Volume 10, Issue 6, Page(s) 461; author reply 461–2

MeSH term(s)	Female ; Genetic Carrier Screening/methods ; Genetic Counseling ; Genetic Testing/standards ; Guidelines as Topic ; Heterozygote ; Humans ; Jews/genetics ; Male ; Research Personnel ; Risk ; United States/ethnology
Language	English
Publishing date	2008-05-13
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1097GIM.0b013e318170f87e
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Article ; Online: Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Cohen, Ana S A / Farrow, Emily G / Abdelmoity, Ahmed T / Alaimo, Joseph T / Amudhavalli, Shivarajan M / Anderson, John T / Bansal, Lalit / Bartik, Lauren / Baybayan, Primo / Belden, Bradley / Berrios, Courtney D / Biswell, Rebecca L / Buczkowicz, Pawel / Buske, Orion / Chakraborty, Shreyasee / Cheung, Warren A / Coffman, Keith A / Cooper, Ashley M / Cross, Laura A /

Curran, Tom / Dang, Thuy Tien T / Elfrink, Mary M / Engleman, Kendra L / Fecske, Erin D / Fieser, Cynthia / Fitzgerald, Keely / Fleming, Emily A / Gadea, Randi N / Gannon, Jennifer L / Gelineau-Morel, Rose N / Gibson, Margaret / Goldstein, Jeffrey / Grundberg, Elin / Halpin, Kelsee / Harvey, Brian S / Heese, Bryce A / Hein, Wendy / Herd, Suzanne M / Hughes, Susan S / Ilyas, Mohammed / Jacobson, Jill / Jenkins, Janda L / Jiang, Shao / Johnston, Jeffrey J / Keeler, Kathryn / Korlach, Jonas / Kussmann, Jennifer / Lambert, Christine / Lawson, Caitlin / Le Pichon, Jean-Baptiste / Leeder, James Steven / Little, Vicki C / Louiselle, Daniel A / Lypka, Michael / McDonald, Brittany D / Miller, Neil / Modrcin, Ann / Nair, Annapoorna / Neal, Shelby H / Oermann, Christopher M / Pacicca, Donna M / Pawar, Kailash / Posey, Nyshele L / Price, Nigel / Puckett, Laura M B / Quezada, Julio F / Raje, Nikita / Rowell, William J / Rush, Eric T / Sampath, Venkatesh / Saunders, Carol J / Schwager, Caitlin / Schwend, Richard M / Shaffer, Elizabeth / Smail, Craig / Soden, Sarah / Strenk, Meghan E / Sullivan, Bonnie R / Sweeney, Brooke R / Tam-Williams, Jade B / Walter, Adam M / Welsh, Holly / Wenger, Aaron M / Willig, Laurel K / Yan, Yun / Younger, Scott T / Zhou, Dihong / Zion, Tricia N / Thiffault, Isabelle / Pastinen, Tomi

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

2022 Volume 24, Issue 6, Page(s) 1336–1348

Abstract: Purpose: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.: Methods: Extensive analyses of 960 families with suspected genetic disorders ... ...

Abstract	Purpose: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. Methods: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes. Results: Diagnostic rates ranged from 11% in patients with prior negative genetic testing to 34.5% in naive patients. Incorporating SVs from genome sequencing added up to 13% of new diagnoses in previously unsolved cases. HiFi-GS yielded increased discovery rate with >4-fold more rare coding SVs compared with srGS. Variants and genes of unknown significance remain the most common finding (58% of nondiagnostic cases). Conclusion: Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data to accelerate gene validation and by providing HiFi variant (SNV/SV) resources from >1000 human alleles to facilitate implementation of new sequencing platforms for rare disease diagnoses.
MeSH term(s)	Child ; Genome ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Sequence Analysis, DNA
Language	English
Publishing date	2022-03-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2022.02.007
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Article: Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Dinwiddie, Darrell L. / Smith, Laurie D. / Miller, Neil A. / Atherton, Andrea M. / Farrow, Emily G. / Strenk, Meghan E. / Soden, Sarah E. / Saunders, Carol J. / Kingsmore, Stephen F.

Genomics

Volume v. 102,, Issue no. 3

Abstract	Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations.
Keywords	patients ; coenzyme Q10 ; heterozygosity ; genes ; mutation ; loci ; siblings ; mitochondrial DNA ; high-throughput nucleotide sequencing
Language	English
Document type	Article
ISSN	0888-7543
Database	AGRIS - International Information System for the Agricultural Sciences and Technology

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