Literature DB >> 22594747

One community's effort to control genetic disease.

Kevin A Strauss1, Erik G Puffenberger, D Holmes Morton.   

Abstract

In 1989, we established a small community health clinic to provide care for uninsured Amish and Mennonite children with genetic disorders. Over 20 years, we have used publicly available molecular data and sophisticated technologies to improve diagnostic efficiency, control laboratory costs, reduce hospitalizations, and prevent major neurological impairments within a rural underserved community. These actions allowed the clinic's 2010 operating budget of $1.5 million to save local communities an estimated $20 to $25 million in aggregate medical costs. This exposes an unsettling fact: our failure to improve the lot of most people stricken with genetic disease is no longer a matter of scientific ignorance or prohibitive costs but of choices we make about how to implement existing knowledge and resources.

Entities:  

Mesh:

Year:  2012        PMID: 22594747      PMCID: PMC3477994          DOI: 10.2105/AJPH.2011.300569

Source DB:  PubMed          Journal:  Am J Public Health        ISSN: 0090-0036            Impact factor:   9.308


  38 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.  Genomic medicine: who will practice it? A call to open arms.

Authors:  A E Guttmacher; J Jenkins; W R Uhlmann
Journal:  Am J Med Genet       Date:  2001

3.  Community-based approaches to HIV treatment in resource-poor settings.

Authors:  P Farmer; F Léandre; J S Mukherjee; M Claude; P Nevil; M C Smith-Fawzi; S P Koenig; A Castro; M C Becerra; J Sachs; A Attaran; J Y Kim
Journal:  Lancet       Date:  2001-08-04       Impact factor: 79.321

4.  Impact of molecular medicine on pathophysiology, medical practice, and medical education.

Authors:  Stjepan Gamulin
Journal:  Croat Med J       Date:  2003-08       Impact factor: 1.351

5.  Landmark article March 19, 1927: The care of the patient. By Francis W. Peabody.

Authors:  F W Peabody
Journal:  JAMA       Date:  1984-08-10       Impact factor: 56.272

6.  Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Authors:  D Holmes Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Richard I Kelley
Journal:  Pediatrics       Date:  2002-06       Impact factor: 7.124

Review 7.  Genetic equity.

Authors:  John Harris; John Sulston
Journal:  Nat Rev Genet       Date:  2004-10       Impact factor: 53.242

8.  Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Authors:  Erik G Puffenberger; Diane Hu-Lince; Jennifer M Parod; David W Craig; Seth E Dobrin; Andrew R Conway; Elizabeth A Donarum; Kevin A Strauss; Travis Dunckley; Javier F Cardenas; Kara R Melmed; Courtney A Wright; Winnie Liang; Phillip Stafford; C Robert Flynn; D Holmes Morton; Dietrich A Stephan
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-23       Impact factor: 11.205

9.  Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

Authors:  E G Puffenberger
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

10.  Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Authors:  D Holmes Morton; Caroline S Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Christine Hendrickson; Richard I Kelley
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

View more
  15 in total

1.  Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.

Authors:  Maryam Abiri; Hassan Saei; Maryam Eghbali; Razieh Karamzadeh; Tina Shirzadeh; Zohreh Sharifi; Sirous Zeinali
Journal:  Metab Brain Dis       Date:  2019-05-22       Impact factor: 3.584

2.  Health Needs Assessment of Plain Populations in Lancaster County, Pennsylvania.

Authors:  Kirk Miller; Berwood Yost; Christina Abbott; Scottie Thompson; Emily Dlugi; Zachary Adams; Meryl Schulman; Nicole Strauss
Journal:  J Community Health       Date:  2017-02

Review 3.  Molecular genetic testing and the future of clinical genomics.

Authors:  Sara Huston Katsanis; Nicholas Katsanis
Journal:  Nat Rev Genet       Date:  2013-06       Impact factor: 53.242

4.  TNNT1 nemaline myopathy: natural history and therapeutic frontier.

Authors:  Michael D Fox; Vincent J Carson; Han-Zhong Feng; Michael W Lawlor; John T Gray; Karlla W Brigatti; J-P Jin; Kevin A Strauss
Journal:  Hum Mol Genet       Date:  2018-09-15       Impact factor: 6.150

5.  Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Authors:  Fatma A Al-Jasmi; Aisha Al-Shamsi; Jozef L Hertecant; Sania M Al-Hamad; Abdul-Kader Souid
Journal:  JIMD Rep       Date:  2015-11-21

6.  Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.

Authors:  Rachel L Kember; Benjamin Georgi; Joan E Bailey-Wilson; Dwight Stambolian; Steven M Paul; Maja Bućan
Journal:  BMC Genet       Date:  2015-03-15       Impact factor: 2.797

7.  A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.

Authors:  Kevin A Strauss; Sander Markx; Benjamin Georgi; Steven M Paul; Robert N Jinks; Toshinori Hoshi; Ann McDonald; Michael B First; Wencheng Liu; Abigail R Benkert; Adam D Heaps; Yutao Tian; Aravinda Chakravarti; Maja Bucan; Erik G Puffenberger
Journal:  Hum Mol Genet       Date:  2014-06-30       Impact factor: 6.150

8.  Sharing the Load: Amish Healthcare Financing.

Authors:  Kristyn Rohrer; Lauren Dundes
Journal:  Healthcare (Basel)       Date:  2016-12-14

9.  Genomic diagnostics within a medically underserved population: efficacy and implications.

Authors:  Kevin A Strauss; Claudia Gonzaga-Jauregui; Karlla W Brigatti; Katie B Williams; Alejandra K King; Cristopher Van Hout; Donna L Robinson; Millie Young; Kavita Praveen; Adam D Heaps; Mindy Kuebler; Aris Baras; Jeffrey G Reid; John D Overton; Frederick E Dewey; Robert N Jinks; Ian Finnegan; Scott J Mellis; Alan R Shuldiner; Erik G Puffenberger
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822

10.  A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Authors:  Neil A Miller; Emily G Farrow; Margaret Gibson; Laurel K Willig; Greyson Twist; Byunggil Yoo; Tyler Marrs; Shane Corder; Lisa Krivohlavek; Adam Walter; Josh E Petrikin; Carol J Saunders; Isabelle Thiffault; Sarah E Soden; Laurie D Smith; Darrell L Dinwiddie; Suzanne Herd; Julie A Cakici; Severine Catreux; Mike Ruehle; Stephen F Kingsmore
Journal:  Genome Med       Date:  2015-09-30       Impact factor: 11.117

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.