Genomics and Precision Medicine: Molecular Diagnostics Innovations Shaping the Future of Healthcare in Qatar

Unprecedented developments in genomics research and ancillary technologies are creating the potential for astonishing changes in both the healthcare field and the life sciences sector. The innovative genomics applications include the following: (1) embracing next generation sequencing (NGS) in clinical diagnostics setting (applying both whole genome and exome sequencing), (2) single cell sequencing studies, (3) quantifying gene expression changes (including whole transcriptome sequencing), (4) pharmacogenomics, and (5) cell-free DNA blood-based testing. This minireview describes the impact of clinical genomics disruptive innovations on the healthcare system in order to provide better diagnosis and treatment. The observed evolution is not limited to the point-of-care services. Genomics technological breakthroughs are pushing the healthcare environment towards personalized healthcare with the real potential to attain better wellbeing. In this article, we will briefly discuss the Gulf region population-based genome initiatives that intend to improve personalized healthcare by offering better prevention, diagnosis, and therapy for the individual (precision medicine). Qatar’s endeavor in genomics medicine will be underscored including the private Applied Biomedicine Initiative (ABI).

[1]  N. Dewik,et al.  GENOMICS MEDICINE INNOVATIONS: TRENDS SHAPING THE FUTURE OF HEALTHCARE AND BEYOND. , 2017 .

[2]  Erika Check Hayden The rise and fall and rise again of 23andMe , 2017, Nature.

[3]  M. Skov,et al.  Whole-genome sequencing for identification of the source in hospital-acquired Legionnaires' disease. , 2017, The Journal of hospital infection.

[4]  Yi Zhang,et al.  Identifying the clonal relationship model of multifocal papillary thyroid carcinoma by whole genome sequencing. , 2017, Cancer letters.

[5]  Carme Camps,et al.  Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service , 2017, PLoS medicine.

[6]  Jocelyn Kaiser,et al.  Saudi gene hunters comb country's DNA to prevent rare diseases , 2016 .

[7]  M. Yassin,et al.  Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar , 2016 .

[8]  I. Mittra,et al.  Evidence for cell-free nucleic acids as continuously arising endogenous DNA mutagens. , 2016, Mutation research.

[9]  Zhan Zhou,et al.  Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine , 2016, Genom. Proteom. Bioinform..

[10]  Y. Joly,et al.  Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views , 2016, BMC Medical Genomics.

[11]  J. Rosenfeld,et al.  Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate , 2016, BMC Medical Genomics.

[12]  A. Souid,et al.  Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates , 2016, Orphanet Journal of Rare Diseases.

[13]  Jason Hinds,et al.  Clinical use of whole genome sequencing for Mycobacterium tuberculosis , 2016, BMC Medicine.

[14]  A. Kariminejad,et al.  Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population , 2016, Clinical genetics.

[15]  S. Carillo,et al.  Clinical and molecular response to interferon-α therapy in essential thrombocythemia patients with CALR mutations. , 2015, Blood.

[16]  Kimberly R. Kukurba,et al.  RNA Sequencing and Analysis. , 2015, Cold Spring Harbor protocols.

[17]  Saudi Mendeliome Group Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases , 2015, Genome Biology.

[18]  Saudi Mendeliome Group Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases , 2015, Genome Biology.

[19]  F. Alkuraya,et al.  High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders , 2015, Human Genetics.

[20]  A. Knuth,et al.  Targeted Exome Sequencing Identifies Novel Mutations in Familial Myeloproliferative Neoplasms Patients in the State of Qatar , 2014 .

[21]  F. Al-Mulla The locked genomes: A perspective from Arabia , 2014, Applied & translational genomics.

[22]  S. Mooney Progress towards the integration of pharmacogenomics in practice , 2014, Human Genetics.

[23]  Misha Angrist,et al.  Personalized medicine and human genetic diversity. , 2014, Cold Spring Harbor perspectives in medicine.

[24]  M. Cazzola,et al.  From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. , 2014, Blood.

[25]  P. Mordant,et al.  Extension lymphatique du cancer du poumon : une anatomie enchaînée dans des zones , 2014 .

[26]  A. Bittner,et al.  Comparison of RNA-Seq and Microarray in Transcriptome Profiling of Activated T Cells , 2014, PloS one.

[27]  Junhyong Kim,et al.  The promise of single-cell sequencing , 2013, Nature Methods.

[28]  Tal Nawy,et al.  Single-cell sequencing , 2013, Nature Methods.

[29]  Method of the Year 2013 , 2013, Nature Methods.

[30]  G. Superti-Furga,et al.  Somatic mutations of calreticulin in myeloproliferative neoplasms. , 2013, The New England journal of medicine.

[31]  J. D. Fitzpatrick,et al.  Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. , 2013, The New England journal of medicine.

[32]  Nader I. Al-Dewik Molecular stratification of myeloproliferative neoplasms (MPNs) patients in the State of Qatar according to World Health Organization (WHO) 2008 Criteria , 2013 .

[33]  M. Yassin,et al.  Familial Essential Thrombocythemia Among Qatari Tribes , 2013 .

[34]  Michael K. Slevin,et al.  Circular RNAs are abundant, conserved, and associated with ALU repeats. , 2013, RNA.

[35]  Peter Saffrey,et al.  Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.

[36]  L. Hood,et al.  A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory. , 2012, New biotechnology.

[37]  D. Corey,et al.  RNA sequencing: platform selection, experimental design, and data interpretation. , 2012, Nucleic acid therapeutics.

[38]  R. Parr,et al.  Mitochondrial and nuclear genomics and the emergence of personalized medicine , 2012, Human Genomics.

[39]  Howard Y. Chang,et al.  Genome regulation by long noncoding RNAs. , 2012, Annual review of biochemistry.

[40]  F. Panza,et al.  Pharmacogenetics in geriatric medicine: challenges and opportunities for clinical practice. , 2011, Current drug metabolism.

[41]  Laura Bonetta,et al.  Whole-Genome Sequencing Breaks the Cost Barrier , 2010, Cell.

[42]  P. Guglielmelli,et al.  Advances in Understanding and Management of Myeloproliferative Neoplasms , 2009, CA: a cancer journal for clinicians.

[43]  P. J. Pretorius,et al.  The origin of circulating free DNA. , 2007, Clinical chemistry.

[44]  S. Astley An introduction to nutrigenomics developments and trends , 2007, Genes & Nutrition.

[45]  P. Paterlini-Bréchot,et al.  Circulating tumor cells (CTC) detection: clinical impact and future directions. , 2007, Cancer letters.

[46]  Vishnu Swarup,et al.  Circulating (cell‐free) nucleic acids – A promising, non‐invasive tool for early detection of several human diseases , 2007, FEBS letters.

[47]  M. Stratton,et al.  JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. , 2007, The New England journal of medicine.

[48]  J. Massagué,et al.  Cancer Metastasis: Building a Framework , 2006, Cell.

[49]  D. Gilliland,et al.  MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. , 2006, Blood.

[50]  Sandra A. Moore,et al.  MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia , 2006, PLoS medicine.

[51]  W. Vainchenker,et al.  A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects. , 2005, Trends in molecular medicine.

[52]  M. Cazzola,et al.  Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. , 2005, Blood.

[53]  Mario Cazzola,et al.  A gain-of-function mutation of JAK2 in myeloproliferative disorders. , 2005, The New England journal of medicine.

[54]  Sandra A. Moore,et al.  Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. , 2005, Cancer cell.

[55]  P. Campbell,et al.  Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders , 2005, The Lancet.

[56]  V. Darley-Usmar,et al.  The powerhouse takes control of the cell; the role of mitochondria in signal transduction. , 2004, Free radical biology & medicine.

[57]  D. Bartel MicroRNAs Genomics, Biogenesis, Mechanism, and Function , 2004, Cell.

[58]  S. Kersten,et al.  Nutrigenomics: goals and strategies , 2003, Nature Reviews Genetics.

[59]  L. Hood,et al.  The digital code of DNA , 2003, Nature.

[60]  J. V. Moran,et al.  Initial sequencing and analysis of the human genome. , 2001, Nature.

[61]  A. Roses Pharmacogenetics and the practice of medicine , 2000, Nature.

[62]  F. Sanger,et al.  Sequence and organization of the human mitochondrial genome , 1981, Nature.

[63]  T. Ben-Omran,et al.  Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. , 2015, JIMD reports.

[64]  M. Gerstein,et al.  RNA-Seq: a revolutionary tool for transcriptomics , 2009, Nature Reviews Genetics.

[65]  A. Tefferi,et al.  Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms , 2008, Leukemia.

[66]  BMC Biology BioMed Central , 2004 .