Privacy-preserving genomic testing in the clinic: A model using HIV treatment
Di Benedetto C.
genetic test reporting
health care delivery
health care personnel
highly active antiretroviral therapy
Human immunodeficiency virus infected patient
Human immunodeficiency virus infection
major clinical study
Human immunodeficiency virus infection
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AbstractPurpose:The implementation of genomic-based medicine is hindered by unresolved questions regarding data privacy and delivery of interpreted results to health-care practitioners. We used DNA-based prediction of HIV-related outcomes as a model to explore critical issues in clinical genomics.Methods:We genotyped 4,149 markers in HIV-positive individuals. Variants allowed for prediction of 17 traits relevant to HIV medical care, inference of patient ancestry, and imputation of human leukocyte antigen (HLA) types. Genetic data were processed under a privacy-preserving framework using homomorphic encryption, and clinical reports describing potentially actionable results were delivered to health-care providers.Results:A total of 230 patients were included in the study. We demonstrated the feasibility of encrypting a large number of genetic markers, inferring patient ancestry, computing monogenic and polygenic trait risks, and reporting results under privacy-preserving conditions. The average execution time of a multimarker test on encrypted data was 865 ms on a standard computer. The proportion of tests returning potentially actionable genetic results ranged from 0 to 54%.Conclusions:The model of implementation presented herein informs on strategies to deliver genomic test results for clinical care. Data encryption to ensure privacy helps to build patient trust, a key requirement on the road to genomic-based medicine. © 2015 American College of Medical Genetics and Genomics.
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Al-Wasf Al-Shar'i Li Al-Jinum Al-Bashari Wa Al-'Ilaj Al-JiniNashmi, 'ajil (2016-01-08)This paper was submitted to the symposium held by the Islamic Organization for Medical Sciences (IOMS) in Kuwait during the period 13-15 October 1998 on genetics. The paper starts with introductory notes on the importance of science in building up civilizations. The author views that scientific research on genetics is one of the most important scientific achievements in the modern time. He concludes that the Islamic religio-ethical perspective on the Human Genome Project (HGP) and gene therapy should be developed on the basis of evaluating both their risks and benefits.
Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease.Cabrera, Sonia; Sanchez, Elena; Requena, Teresa; Martinez-Bueno, Manuel; Benitez, Jesus; Perez, Nicolas; Trinidad, Gabriel; Soto-Varela, Andrés; Santos-Perez, Sofía; Martin-Sanz, Eduardo; et al. (Plos One, 2015-11-19)Meniere's disease is an episodic vestibular syndrome associated with sensorineural hearing loss (SNHL) and tinnitus. Patients with MD have an elevated prevalence of several autoimmune diseases (rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and psoriasis), which suggests a shared autoimmune background. Functional variants of several genes involved in the NF-κB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more immune-mediated diseases and allelic variations in the TLR10 gene may influence bilateral affectation and clinical course in MD. We have genotyped 716 cases of MD and 1628 controls by using the ImmunoChip, a high-density genotyping array containing 186 autoimmune loci, to explore the association of immune system related-loci with sporadic MD. Although no single nucleotide polymorphism (SNP) reached a genome-wide significant association (p<10(-8)), we selected allelic variants in the NF-kB pathway for further analyses to evaluate the impact of these SNPs in the clinical outcome of MD in our cohort. None of the selected SNPs increased susceptibility for MD in patients with uni or bilateral SNHL. However, two potential regulatory variants in the NFKB1 gene (rs3774937 and rs4648011) were associated with a faster hearing loss progression in patients with unilateral SNHL. So, individuals with unilateral MD carrying the C allele in rs3774937 or G allele in rs4648011 had a shorter mean time to reach hearing stage 3 (>40 dB HL) (log-rank test, corrected p values were p = 0.009 for rs3774937 and p = 0.003 for rs4648011, respectively). No variants influenced hearing in bilateral MD. Our data support that the allelic variants rs3774937 and rs4648011 can modify hearing outcome in patients with MD and unilateral SNHL.