Matthew B Neu1,2,3, Kevin M Bowling1, Gregory M Cooper1. 1. HudsonAlpha Institute for Biotechnology, Huntsville. 2. Department of Genetics, University of Alabama at Birmingham. 3. University of Alabama at Birmingham Medical Scientist Training Program, Birmingham, Alabama, USA.
Abstract
PURPOSE OF REVIEW: Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. This review summarizes current genetic testing options along with their potential benefits and limitations. We also describe results from large-scale genomic sequencing projects in pediatric and neonatal populations with a focus on clinical utility. RECENT FINDINGS: Recent advances in DNA sequencing technology have made genomic sequencing a feasible and effective testing option in a variety of clinical settings. These cutting-edge tests offer much promise to both medical providers and patients as it has been demonstrated to detect causal genetic variation in ∼25% or more of previously unresolved cases. Efforts aimed at promoting data sharing across clinical genetics laboratories and systematic reanalysis of existing genomic sequencing data have further improved diagnostic rates and reduced the number of unsolved cases. SUMMARY: Genomic sequencing is a powerful and increasingly cost-effective alternative to current genetic tests and will continue to grow in clinical utility as more of the genome is understood and as analytical methods are improved. The evolution of genomic sequencing is changing the landscape of clinical testing and requires medical professionals who are adept at understanding and returning genomic results to patients.
PURPOSE OF REVIEW: Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. This review summarizes current genetic testing options along with their potential benefits and limitations. We also describe results from large-scale genomic sequencing projects in pediatric and neonatal populations with a focus on clinical utility. RECENT FINDINGS: Recent advances in DNA sequencing technology have made genomic sequencing a feasible and effective testing option in a variety of clinical settings. These cutting-edge tests offer much promise to both medical providers and patients as it has been demonstrated to detect causal genetic variation in ∼25% or more of previously unresolved cases. Efforts aimed at promoting data sharing across clinical genetics laboratories and systematic reanalysis of existing genomic sequencing data have further improved diagnostic rates and reduced the number of unsolved cases. SUMMARY: Genomic sequencing is a powerful and increasingly cost-effective alternative to current genetic tests and will continue to grow in clinical utility as more of the genome is understood and as analytical methods are improved. The evolution of genomic sequencing is changing the landscape of clinical testing and requires medical professionals who are adept at understanding and returning genomic results to patients.
Authors: Lea M Starita; Muhtadi M Islam; Tapahsama Banerjee; Aleksandra I Adamovich; Justin Gullingsrud; Stanley Fields; Jay Shendure; Jeffrey D Parvin Journal: Am J Hum Genet Date: 2018-09-12 Impact factor: 11.025
Authors: K Virtaneva; J Miao; A L Träskelin; N Stone; J A Warrington; J Weissenbach; R M Myers; D R Cox; P Sistonen; A de la Chapelle Journal: Am J Hum Genet Date: 1996-06 Impact factor: 11.025
Authors: Ozge Ceyhan-Birsoy; Jaclyn B Murry; Kalotina Machini; Matthew S Lebo; Timothy W Yu; Shawn Fayer; Casie A Genetti; Talia S Schwartz; Pankaj B Agrawal; Richard B Parad; Ingrid A Holm; Amy L McGuire; Robert C Green; Heidi L Rehm; Alan H Beggs Journal: Am J Hum Genet Date: 2019-01-03 Impact factor: 11.025
Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822
Authors: Kevin M Bowling; Michelle L Thompson; Michelle D Amaral; Candice R Finnila; Susan M Hiatt; Krysta L Engel; J Nicholas Cochran; Kyle B Brothers; Kelly M East; David E Gray; Whitley V Kelley; Neil E Lamb; Edward J Lose; Carla A Rich; Shirley Simmons; Jana S Whittle; Benjamin T Weaver; Amy S Nesmith; Richard M Myers; Gregory S Barsh; E Martina Bebin; Gregory M Cooper Journal: Genome Med Date: 2017-05-30 Impact factor: 11.117
Authors: Konrad J Karczewski; Ben Weisburd; Brett Thomas; Matthew Solomonson; Douglas M Ruderfer; David Kavanagh; Tymor Hamamsy; Monkol Lek; Kaitlin E Samocha; Beryl B Cummings; Daniel Birnbaum; Mark J Daly; Daniel G MacArthur Journal: Nucleic Acids Res Date: 2016-11-28 Impact factor: 16.971
Authors: Michelle L Thompson; Candice R Finnila; Kevin M Bowling; Kyle B Brothers; Matthew B Neu; Michelle D Amaral; Susan M Hiatt; Kelly M East; David E Gray; James M J Lawlor; Whitley V Kelley; Edward J Lose; Carla A Rich; Shirley Simmons; Shawn E Levy; Richard M Myers; Gregory S Barsh; E Martina Bebin; Gregory M Cooper Journal: Genet Med Date: 2018-04-12 Impact factor: 8.822
Authors: Isabelle Thiffault; Emily Farrow; Lee Zellmer; Courtney Berrios; Neil Miller; Margaret Gibson; Raymond Caylor; Janda Jenkins; Deb Faller; Sarah Soden; Carol Saunders Journal: Genet Med Date: 2018-07-16 Impact factor: 8.822
Authors: Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce Journal: Genes (Basel) Date: 2021-08-19 Impact factor: 4.096