Literature DB >> 33274544

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Andrew K Sobering1,2, Dong Li3, Jennifer S Beighley4, John C Carey5, Tyhiesia Donald6,7, Sarah H Elsea8, Karla P Figueroa9, Jennifer Gerdts4, Andre Hamlet6,7, Ghayda M Mirzaa10,11,12, Beverly Nelson7, Stefan M Pulst9, Janice L Smith8, Flora Tassone13,14, Helga V Toriello15, Ruth H Walker16,17, Katherine R Yearwood18, Elizabeth J Bhoj3.   

Abstract

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean. We also organized a week-long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow-up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.
© 2020 Wiley Periodicals LLC.

Entities:  

Keywords:  Caribbean; West Indies; clinical genetic testing

Mesh:

Year:  2020        PMID: 33274544      PMCID: PMC8683562          DOI: 10.1002/ajmg.c.31871

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  54 in total

1.  African and non-African admixture components in African Americans and an African Caribbean population.

Authors:  Tanda Murray; Terri H Beaty; Rasika A Mathias; Nicholas Rafaels; Audrey Virginia Grant; Mezbah U Faruque; Harold R Watson; Ingo Ruczinski; Georgia M Dunston; Kathleen C Barnes
Journal:  Genet Epidemiol       Date:  2010-09       Impact factor: 2.135

2.  MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Authors:  K Hoffbuhr; J M Devaney; B LaFleur; N Sirianni; C Scacheri; J Giron; J Schuette; J Innis; M Marino; M Philippart; V Narayanan; R Umansky; D Kronn; E P Hoffman; S Naidu
Journal:  Neurology       Date:  2001-06-12       Impact factor: 9.910

3.  De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Authors:  Margot R F Reijnders; Vasilios Zachariadis; Brooke Latour; Lachlan Jolly; Grazia M Mancini; Rolph Pfundt; Ka Man Wu; Conny M A van Ravenswaaij-Arts; Hermine E Veenstra-Knol; Britt-Marie M Anderlid; Stephen A Wood; Sau Wai Cheung; Angela Barnicoat; Frank Probst; Pilar Magoulas; Alice S Brooks; Helena Malmgren; Arja Harila-Saari; Carlo M Marcelis; Maaike Vreeburg; Emma Hobson; V Reid Sutton; Zornitza Stark; Julie Vogt; Nicola Cooper; Jiin Ying Lim; Sue Price; Angeline Hwei Meeng Lai; Deepti Domingo; Bruno Reversade; Jozef Gecz; Christian Gilissen; Han G Brunner; Usha Kini; Ronald Roepman; Ann Nordgren; Tjitske Kleefstra
Journal:  Am J Hum Genet       Date:  2016-01-28       Impact factor: 11.025

4.  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:  Brett V Johnson; Raman Kumar; Sabrina Oishi; Suzy Alexander; Maria Kasherman; Michelle Sanchez Vega; Atma Ivancevic; Alison Gardner; Deepti Domingo; Mark Corbett; Euan Parnell; Sehyoun Yoon; Tracey Oh; Matthew Lines; Henrietta Lefroy; Usha Kini; Margot Van Allen; Sabine Grønborg; Sandra Mercier; Sébastien Küry; Stéphane Bézieau; Laurent Pasquier; Martine Raynaud; Alexandra Afenjar; Thierry Billette de Villemeur; Boris Keren; Julie Désir; Lionel Van Maldergem; Martina Marangoni; Nicola Dikow; David A Koolen; Peter M VanHasselt; Marjan Weiss; Petra Zwijnenburg; Joaquim Sa; Claudia Falcao Reis; Carlos López-Otín; Olaya Santiago-Fernández; Alberto Fernández-Jaén; Anita Rauch; Katharina Steindl; Pascal Joset; Amy Goldstein; Suneeta Madan-Khetarpal; Elena Infante; Elaine Zackai; Carey Mcdougall; Vinodh Narayanan; Keri Ramsey; Saadet Mercimek-Andrews; Loren Pena; Vandana Shashi; Kelly Schoch; Jennifer A Sullivan; Filippo Pinto E Vairo; Pavel N Pichurin; Sarah A Ewing; Sarah S Barnett; Eric W Klee; M Scott Perry; Mary Kay Koenig; Catherine E Keegan; Jane L Schuette; Stephanie Asher; Yezmin Perilla-Young; Laurie D Smith; Jill A Rosenfeld; Elizabeth Bhoj; Paige Kaplan; Dong Li; Renske Oegema; Ellen van Binsbergen; Bert van der Zwaag; Marie Falkenberg Smeland; Ioana Cutcutache; Matthew Page; Martin Armstrong; Angela E Lin; Marcie A Steeves; Nicolette den Hollander; Mariëtte J V Hoffer; Margot R F Reijnders; Serwet Demirdas; Daniel C Koboldt; Dennis Bartholomew; Theresa Mihalic Mosher; Scott E Hickey; Christine Shieh; Pedro A Sanchez-Lara; John M Graham; Kamer Tezcan; G B Schaefer; Noelle R Danylchuk; Alexander Asamoah; Kelly E Jackson; Naomi Yachelevich; Margaret Au; Luis A Pérez-Jurado; Tjitske Kleefstra; Peter Penzes; Stephen A Wood; Thomas Burne; Tyler Mark Pierson; Michael Piper; Jozef Gécz; Lachlan A Jolly
Journal:  Biol Psychiatry       Date:  2019-06-29       Impact factor: 13.382

5.  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

6.  Presentation and care of a family with Huntington disease in a resource-limited community.

Authors:  Jarmal Charles; Lindyann Lessey; Jennifer Rooney; Ingmar Prokop; Katherine Yearwood; Hazel Da Breo; Patrick Rooney; Ruth H Walker; Andrew K Sobering
Journal:  J Clin Mov Disord       Date:  2017-04-12

7.  Diagnosis of Spinocerebellar Ataxia in the West Indies.

Authors:  Ashley K Yearwood; Shruthi Rethi; Karla P Figueroa; Ruth H Walker; Andrew K Sobering
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-06-26

8.  Pseudo-ataxia due to Osteoid Osteoma.

Authors:  Juanette McKenzie; Curtis Oettel-Flaherty; Douglas Noel; Ruth H Walker; Andrew K Sobering
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-02-06

9.  Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.

Authors:  Nester Mitchell; Gaynel A LaTouche; Beverly Nelson; Karla P Figueroa; Ruth H Walker; Andrew K Sobering
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-09-13

10.  Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

Authors:  Tetsuo Ashizawa; Karla P Figueroa; Susan L Perlman; Christopher M Gomez; George R Wilmot; Jeremy D Schmahmann; Sarah H Ying; Theresa A Zesiewicz; Henry L Paulson; Vikram G Shakkottai; Khalaf O Bushara; Sheng-Han Kuo; Michael D Geschwind; Guangbin Xia; Pietro Mazzoni; Jeffrey P Krischer; David Cuthbertson; Amy Roberts Holbert; John H Ferguson; Stefan M Pulst; S H Subramony
Journal:  Orphanet J Rare Dis       Date:  2013-11-13       Impact factor: 4.123

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  3 in total

1.  Clinical and community genetics services in the Dutch Caribbean.

Authors:  Eline A Verberne; Ginette M Ecury-Goossen; Meindert E Manshande; Maria Ponson-Wever; Maartje de Vroomen; Martijn Tilanus; Marcel M A M Mannens; Lidewij Henneman; Mieke M van Haelst
Journal:  J Community Genet       Date:  2021-03-10

2.  A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.

Authors:  Giavanna Verdi; Dong Li; Sarah H Elsea; Beverly Nelson; Elizabeth J Bhoj; Hakon Hakonarson; Katherine R Yearwood; Sharmila Upadhya; Sarah Gluschitz; Janice L Smith; Andrew K Sobering
Journal:  Mol Genet Genomic Med       Date:  2022-02-21       Impact factor: 2.183

3.  Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

Authors:  Eline A Verberne; Jonne M Westermann; Tamar I de Vries; Ginette M Ecury-Goossen; Shirley M Lo-A-Njoe; Meindert E Manshande; Sonja Faries; Hans D Veenhuis; Patricia Philippi; Farah A Falix; Irsa Rosina-Angelista; Maria Ponson-Wever; Louise Rafael-Croes; Patricia Thorsen; Eric Arends; Maartje de Vroomen; Sietse Q Nagelkerke; Martijn Tilanus; Lars T van der Veken; Karin Huijsdens-van Amsterdam; Anne-Marie van der Kevie-Kersemaekers; Mariëlle Alders; Marcel M A M Mannens; Mieke M van Haelst
Journal:  Am J Med Genet A       Date:  2022-03-07       Impact factor: 2.578

  3 in total

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