The rare and undiagnosed diseases diagnostic service - Application of massively parallel sequencing in a state-wide clinical service

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Baynam, Gareth ^a,b,c,d,g   Pachter, Nicholas ^a,b   McKenzie, Fiona ^a,b   Townshend, Sharon ^a   Slee, Jennie ^a   Kiraly Borri, Cathy ^a,b   Vasudevan, Anand ^a   Hawkins, Anne ^a   Broley, Stephanie ^a   Schofield, Lyn ^a,c   Verhoef, Hedwig ^h,i   Walker, Caroline E ^a   Molster, Caron ^a   Blackwell, Jenefer M ^d   Jamieson, Sarra ^d   Tang, Dave ^d   Lassmann, Timo ^d   Mina, Kym ^b,e   Beilby, John ^e   Davis, Mark ^e   Laing, Nigel ^b,e   Murphy, Lesley ^c,j   Weeramanthri, Tarun ^a   Dawkins, Hugh ^a,b,c,f   Goldblatt, Jack ^a,b   more..

^a DEPARTMENT OF HEALTH   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c MURDOCH UNIVERSITY   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e PATHWEST LABORATORY MEDICINE   (Australia)

^f CURTIN UNIVERSITY   (Australia)

^g Western Australian Register of Developmental Anomalies   (Australia)

^h CURTIN UNIVERSITY   (Australia)

ⁱ Andrew Haywood is with the Cooperative Research Centre for Spatial Information   (Australia)

^j Voice Care Australia   (Australia)

more..

Author keywords

Clinical best practice; Diagnosis; Diagnostic odyssey; Genomics; Policy; Precision public health; Undiagnosed

Indexed keywords

ARTICLE; CLINICAL GENETICS; CLINICAL RESEARCH; COMPUTER MODEL; DIAGNOSTIC TEST; EXOME; GENETIC SERVICE; GENOME ANALYSIS; GENOMICS; PEDIATRICS; PUBLIC HEALTH SERVICE; RARE AND UNDIAGNOSED DISEASES DIAGNOSTIC SERVICE; TRANSLATIONAL RESEARCH; AUSTRALIA; HEALTH CARE DELIVERY; HIGH THROUGHPUT SEQUENCING; HUMAN; PREVENTIVE HEALTH SERVICE; PROCEDURES; RARE DISEASES; STATISTICS AND NUMERICAL DATA;

AUSTRALIA; DELIVERY OF HEALTH CARE; DIAGNOSTIC SERVICES; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; RARE DISEASES;

EID: 84976892784     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0462-7     Document Type: Article

References (15)

1. Ayme S, Rodwell C., eds. 2013 Report on the state of the art of rare disease activities in Europe. EUCERD, 2013
2. European Organisation for Rare Diseases. Rare Diseases: understanding this public health priority. EURORDIS, 2005.
3. Remuzzi G, Garattini S. Rare diseases: what's next? Lancet (London, England). 2008;371(9629):1978-9.
4. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet (London, England. 2008;371(9629):2039-41.
5. European Organisation for Rare Diseases. Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS Fact sheets, 2007.
6. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016;11:30.
7. Sorensen G. White Paper: Diagnosis, Misdiagnosis, and the Value of Knowing. Siemens Healthcare, 2014. http://static.healthcare.siemens.com/ Accessed 7 June 2016.
8. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880-7.
9. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18):1870-9.
10. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. Epub Dec. 2015
11. Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, et al. Clinical whole-exome sequencing: are we there yet? Genet Med. 2014;16(9):717-9.
12. Tang D, Anderson D, Francis RW, Syn G, Jamieson SE, Lassmann T, et al. Reference genotype and exome data from an Australian Aboriginal population for health-based research. Scientific Data. 2016;3:160023.
13. Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, et al. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genetics Part A. 2015;167(7):1659-67.
14. Groza T, Kohler S, Doelken S, Collier N, Oellrich A, Smedley D, et al. Automatic concept recognition using the human phenotype ontology reference and test suite corpora. Database (Oxford). 2015;2015:1.
15. Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Kosaki K, et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Molecular genetics and metabolism. 2015;116(4):223-5.