Literature DB >> 29196356

The rise of the genome and personalised medicine.

Helen K Brittain1, Richard Scott2, Ellen Thomas3.   

Abstract

Virtually all medical specialties are impacted by genetic disease. Enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, is transforming the speed of diagnosis for patients and providing increasing opportunities to tailor management. As set out in the Annual report of the Chief Medical Officer 2016: Generation Genome1 and the recent NHS England board paper Creating a genomic medicine service to lay the foundations to deliver personalised interventions and treatments,2 the increasing 'mainstreaming' of genetic testing into routine practice and plans to embed whole genome sequencing in the NHS mean that the profile and importance of genomics is on the rise for many clinicians. This article provides a brief overview of genomics and its current clinical applications, including its contribution to personalised medicine. Physicians will be signposted to key issues that will allow the successful implementation of genomics for rare disease diagnosis and cancer management. © Royal College of Physicians 2017. All rights reserved.

Entities:  

Keywords:  Ethics; genomics; personalised medicine; variant classification and whole genome sequencing

Mesh:

Year:  2017        PMID: 29196356      PMCID: PMC6297695          DOI: 10.7861/clinmedicine.17-6-545

Source DB:  PubMed          Journal:  Clin Med (Lond)        ISSN: 1470-2118            Impact factor:   2.659


  9 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study.

Authors:  H A Neil; T Hammond; R Huxley; D R Matthews; S E Humphries
Journal:  BMJ       Date:  2000-07-15

3.  Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

Authors:  Paul B Chapman; Axel Hauschild; Caroline Robert; John B Haanen; Paolo Ascierto; James Larkin; Reinhard Dummer; Claus Garbe; Alessandro Testori; Michele Maio; David Hogg; Paul Lorigan; Celeste Lebbe; Thomas Jouary; Dirk Schadendorf; Antoni Ribas; Steven J O'Day; Jeffrey A Sosman; John M Kirkwood; Alexander M M Eggermont; Brigitte Dreno; Keith Nolop; Jiang Li; Betty Nelson; Jeannie Hou; Richard J Lee; Keith T Flaherty; Grant A McArthur
Journal:  N Engl J Med       Date:  2011-06-05       Impact factor: 91.245

4.  Circulating C-type natriuretic peptide (CNP) rescues chondrodysplastic CNP knockout mice from their impaired skeletal growth and early death.

Authors:  Toshihito Fujii; Yasato Komatsu; Akihiro Yasoda; Eri Kondo; Tetsuro Yoshioka; Takuo Nambu; Naotestu Kanamoto; Masako Miura; Naohisa Tamura; Hiroshi Arai; Masashi Mukoyama; Kazuwa Nakao
Journal:  Endocrinology       Date:  2010-07-07       Impact factor: 4.736

5.  HLA-B*5701 screening for hypersensitivity to abacavir.

Authors:  Simon Mallal; Elizabeth Phillips; Giampiero Carosi; Jean-Michel Molina; Cassy Workman; Janez Tomazic; Eva Jägel-Guedes; Sorin Rugina; Oleg Kozyrev; Juan Flores Cid; Phillip Hay; David Nolan; Sara Hughes; Arlene Hughes; Susanna Ryan; Nicholas Fitch; Daren Thorborn; Alastair Benbow
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

6.  Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes.

Authors:  Jaime L Peters; Rob Anderson; Chris Hyde
Journal:  BMJ Open       Date:  2013-05-28       Impact factor: 2.692

7.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

8.  Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution.

Authors:  Christopher Abbosh; Nicolai J Birkbak; Gareth A Wilson; Mariam Jamal-Hanjani; Tudor Constantin; Raheleh Salari; John Le Quesne; David A Moore; Selvaraju Veeriah; Rachel Rosenthal; Teresa Marafioti; Eser Kirkizlar; Thomas B K Watkins; Nicholas McGranahan; Sophia Ward; Luke Martinson; Joan Riley; Francesco Fraioli; Maise Al Bakir; Eva Grönroos; Francisco Zambrana; Raymondo Endozo; Wenya Linda Bi; Fiona M Fennessy; Nicole Sponer; Diana Johnson; Joanne Laycock; Seema Shafi; Justyna Czyzewska-Khan; Andrew Rowan; Tim Chambers; Nik Matthews; Samra Turajlic; Crispin Hiley; Siow Ming Lee; Martin D Forster; Tanya Ahmad; Mary Falzon; Elaine Borg; David Lawrence; Martin Hayward; Shyam Kolvekar; Nikolaos Panagiotopoulos; Sam M Janes; Ricky Thakrar; Asia Ahmed; Fiona Blackhall; Yvonne Summers; Dina Hafez; Ashwini Naik; Apratim Ganguly; Stephanie Kareht; Rajesh Shah; Leena Joseph; Anne Marie Quinn; Phil A Crosbie; Babu Naidu; Gary Middleton; Gerald Langman; Simon Trotter; Marianne Nicolson; Hardy Remmen; Keith Kerr; Mahendran Chetty; Lesley Gomersall; Dean A Fennell; Apostolos Nakas; Sridhar Rathinam; Girija Anand; Sajid Khan; Peter Russell; Veni Ezhil; Babikir Ismail; Melanie Irvin-Sellers; Vineet Prakash; Jason F Lester; Malgorzata Kornaszewska; Richard Attanoos; Haydn Adams; Helen Davies; Dahmane Oukrif; Ayse U Akarca; John A Hartley; Helen L Lowe; Sara Lock; Natasha Iles; Harriet Bell; Yenting Ngai; Greg Elgar; Zoltan Szallasi; Roland F Schwarz; Javier Herrero; Aengus Stewart; Sergio A Quezada; Karl S Peggs; Peter Van Loo; Caroline Dive; C Jimmy Lin; Matthew Rabinowitz; Hugo J W L Aerts; Allan Hackshaw; Jacqui A Shaw; Bernhard G Zimmermann; Charles Swanton
Journal:  Nature       Date:  2017-04-26       Impact factor: 49.962

9.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

  9 in total
  15 in total

1.  Guidelines for Genetic Testing and Management of Alport Syndrome.

Authors:  Judy Savige; Beata S Lipska-Zietkiewicz; Elizabeth Watson; Jens Michael Hertz; Constantinos Deltas; Francesca Mari; Pascale Hilbert; Pavlina Plevova; Peter Byers; Agne Cerkauskaite; Martin Gregory; Rimante Cerkauskiene; Danica Galesic Ljubanovic; Francesca Becherucci; Carmela Errichiello; Laura Massella; Valeria Aiello; Rachel Lennon; Louise Hopkinson; Ania Koziell; Adrian Lungu; Hansjorg Martin Rothe; Julia Hoefele; Miriam Zacchia; Tamara Nikuseva Martic; Asheeta Gupta; Albertien van Eerde; Susie Gear; Samuela Landini; Viviana Palazzo; Laith Al-Rabadi; Kathleen Claes; Anniek Corveleyn; Evelien Van Hoof; Micheel van Geel; Maggie Williams; Emma Ashton; Hendica Belge; Elisabet Ars; Agnieszka Bierzynska; Concetta Gangemi; Alessandra Renieri; Helen Storey; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2021-12-20       Impact factor: 8.237

2.  COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

Authors:  Jenelle Cocorpus; Megan M Hager; Corinne Benchimol; Vanesa Bijol; Fadi Salem; Sumit Punj; Laura Castellanos; Pamela Singer; Christine B Sethna; Abby Basalely
Journal:  BMC Nephrol       Date:  2022-07-16       Impact factor: 2.585

Review 3.  Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Authors:  Erin Crellin; Belinda McClaren; Amy Nisselle; Stephanie Best; Clara Gaff; Sylvia Metcalfe
Journal:  Front Genet       Date:  2019-09-11       Impact factor: 4.599

Review 4.  Genomics of rare genetic diseases-experiences from India.

Authors:  Sridhar Sivasubbu; Vinod Scaria
Journal:  Hum Genomics       Date:  2019-09-25       Impact factor: 4.639

5.  One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.

Authors:  Maria Weronika Gutowska-Ding; Zandra C Deans; Christophe Roos; Jukka Matilainen; Farrah Khawaja; Kim Brügger; Jo Wook Ahn; Christopher Boustred; Simon J Patton
Journal:  Eur J Hum Genet       Date:  2019-09-30       Impact factor: 4.246

Review 6.  How to design a national genomic project-a systematic review of active projects.

Authors:  Anja Kovanda; Ana Nyasha Zimani; Borut Peterlin
Journal:  Hum Genomics       Date:  2021-03-24       Impact factor: 4.639

7.  Hardware Acceleration of Genomics Data Analysis: Challenges and Opportunities.

Authors:  Tony Robinson; Jim Harkin; Priyank Shukla
Journal:  Bioinformatics       Date:  2021-05-25       Impact factor: 6.937

Review 8.  Privacy considerations for sharing genomics data.

Authors:  Marie Oestreich; Dingfan Chen; Joachim L Schultze; Mario Fritz; Matthias Becker
Journal:  EXCLI J       Date:  2021-07-16       Impact factor: 4.068

Review 9.  Current Status of Genetic Counselling for Rare Diseases in Spain.

Authors:  Sara Álvaro-Sánchez; Irene Abreu-Rodríguez; Anna Abulí; Clara Serra-Juhe; Maria Del Carmen Garrido-Navas
Journal:  Diagnostics (Basel)       Date:  2021-12-09

10.  Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Authors:  Zerin Hyder; Eduardo Calpena; Yang Pei; Rebecca S Tooze; Helen Brittain; Stephen R F Twigg; Deirdre Cilliers; Jenny E V Morton; Emma McCann; Astrid Weber; Louise C Wilson; Andrew G L Douglas; Ruth McGowan; Anna Need; Andrew Bond; Ana Lisa Taylor Tavares; Ellen R A Thomas; Susan L Hill; Zandra C Deans; Freya Boardman-Pretty; Mark Caulfield; Richard H Scott; Andrew O M Wilkie
Journal:  Genet Med       Date:  2021-08-25       Impact factor: 8.822

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