Current genetic medicine reports最新文献

{"title":"An update on the role of common genetic variation underlying substance use disorders.","authors":"Emma C Johnson, Yoonhoo Chang, Arpana Agrawal","doi":"10.1007/s40142-020-00184-w","DOIUrl":"10.1007/s40142-020-00184-w","url":null,"abstract":"<p><strong>Purpose of the review: </strong>Sample size increases have resulted in novel and replicable loci for substance use disorders (SUDs). We summarize some of the latest insights into SUD genetics and discuss some next steps in addiction genetics.</p><p><strong>Recent findings: </strong>Genome-wide association studies have substantiated the role of previously known variants (e.g., rs1229984 in <i>ADH1B</i> for alcohol) and identified several novel loci for alcohol, tobacco, cannabis, opioid and cocaine use disorders. SUDs are genetically correlated with psychiatric outcomes, while liability to substance use is inconsistently associated with these outcomes and more closely associated with lifestyle factors. Specific variant associations appear to differ somewhat across populations, although similar genes and systems are implicated.</p><p><strong>Summary: </strong>The next decade of human genetic studies of addiction should focus on expanding to non-European populations, consider pleiotropy across SUD and with other psychiatric disorders, and leverage human and cross-species functional data to elucidate the biological mechanisms underlying SUDs.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810203/pdf/nihms-1577466.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10294375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation","authors":"B. Desouza, D. Georgiou","doi":"10.1007/s40142-020-00183-x","DOIUrl":"https://doi.org/10.1007/s40142-020-00183-x","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00183-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43665027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)","authors":"N. Cullinan, M. Capra, T. McVeigh","doi":"10.1007/s40142-020-00187-7","DOIUrl":"https://doi.org/10.1007/s40142-020-00187-7","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00187-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48780281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ethical Issues in Genetic Testing for Inherited Cancer Predisposition Syndromes: the Potentially Conflicting Interests of Patients and Their Relatives","authors":"J. Kenny, S. Burcher, Kelly Kohut, N. Eastman","doi":"10.1007/s40142-020-00186-8","DOIUrl":"https://doi.org/10.1007/s40142-020-00186-8","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00186-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52793319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alzheimer’s Disease Genetics: Review of Novel Loci Associated with Disease","authors":"M. Tábuas-Pereira, I. Santana, R. Guerreiro, J. Bras","doi":"10.1007/s40142-020-00182-y","DOIUrl":"https://doi.org/10.1007/s40142-020-00182-y","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00182-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41895071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Network Analysis for Complex Neurodegenerative Diseases","authors":"C. Manzoni, P. Lewis, R. Ferrari","doi":"10.1007/s40142-020-00181-z","DOIUrl":"https://doi.org/10.1007/s40142-020-00181-z","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2020-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00181-z","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46709251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Beyond the Grave: Use of Medical Information from the Deceased to Guide Care of Living Relatives.","authors":"Shereen Tadros,&nbsp;Helena Carley,&nbsp;Anneke Lucassen","doi":"10.1007/s40142-020-00196-6","DOIUrl":"https://doi.org/10.1007/s40142-020-00196-6","url":null,"abstract":"<p><strong>Purpose of review: </strong>In order to inform patients of their genetic risks, access to the medical records and/or stored samples of their relatives is often helpful. We consider some of the obstacles to such access when these relatives are deceased and suggest how they might be navigated.</p><p><strong>Recent findings: </strong>We explore an issue first highlighted in 2004 by Lucassen et al. (Br Med J 328:952-953, 2004) and re-evaluate it in the wake of novel technologies and mainstreaming of genomic medicine. We find that it is still an issue in practice despite professional guidelines advocating access to familial information (Joint Committee on Genomics in Medicine 2019) and that the Human Tissue Act 2004 is often wrongly constructed as a reason to block access. Access is often obstructed by failing to adopt the necessary relational concept of autonomy that applies in genetic medicine as reported by Horton and Lucassen (Curr Genet Med Rep 7:85-91, 2019) and by considering confidentiality to be absolute, even after death. In response to a recent legal case about the confidentiality of genetic test results, and their disclosure to family members (ABC v St George's Healthcare NHS Trust 2020), Dove et al. (J Med Ethics 45:504-507, 2019) suggested that a duty to consider the interests of genetic relatives could co-exist alongside a duty of confidentiality to a patient. In this way, healthcare professionals can use professional judgement about the relative value of genetic information to family members. This is equally relevant in accessing deceased relatives' information. A recent systematic review found a high level of acceptability of postmortem use of genetic data for medical research amongst participants and their relatives, and it is reasonable to assume that this acceptability would extend to clinical practice as reported by Bak et al. (Eur J Hum Genet 28:403-416, 2020).</p><p><strong>Summary: </strong>Within clinical practice, access to medical records/samples of deceased relatives is often obstructed unnecessarily, potentially resulting in harm to the living relatives seeking advice. Consent to such access is important but need not be the bureaucratic hurdle that is often imposed.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-020-00196-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38653320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Opportunities for Artificial Intelligence in Advancing Precision Medicine.","authors":"Fabian V Filipp","doi":"10.1007/s40142-019-00177-4","DOIUrl":"10.1007/s40142-019-00177-4","url":null,"abstract":"<p><strong>Purpose of review: </strong>We critically evaluate the future potential of machine learning (ML), deep learning (DL), and artificial intelligence (AI) in precision medicine. The goal of this work is to show progress in ML in digital health, to exemplify future needs and trends, and to identify any essential prerequisites of AI and ML for precision health.</p><p><strong>Recent findings: </strong>High-throughput technologies are delivering growing volumes of biomedical data, such as large-scale genome-wide sequencing assays; libraries of medical images; or drug perturbation screens of healthy, developing, and diseased tissue. Multi-omics data in biomedicine is deep and complex, offering an opportunity for data-driven insights and automated disease classification. Learning from these data will open our understanding and definition of healthy baselines and disease signatures. State-of-the-art applications of deep neural networks include digital image recognition, single-cell clustering, and virtual drug screens, demonstrating breadths and power of ML in biomedicine.</p><p><strong>Summary: </strong>Significantly, AI and systems biology have embraced big data challenges and may enable novel biotechnology-derived therapies to facilitate the implementation of precision medicine approaches.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00177-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37486834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA Methylation and Type 2 Diabetes: the Use of Mendelian Randomization to Assess Causality.","authors":"Diana L Juvinao-Quintero,&nbsp;Marie-France Hivert,&nbsp;Gemma C Sharp,&nbsp;Caroline L Relton,&nbsp;Hannah R Elliott","doi":"10.1007/s40142-019-00176-5","DOIUrl":"https://doi.org/10.1007/s40142-019-00176-5","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review summarises recent advances in the field of epigenetics in order to understand the aetiology of type 2 diabetes (T2D).</p><p><strong>Recent findings: </strong>DNA methylation at a number of loci has been shown to be robustly associated with T2D, including <i>TXNIP, ABCG1, CPT1A</i>, and <i>SREBF1</i>. However, due to the cross-sectional nature of many epidemiological studies and predominant analysis in samples derived from blood rather than disease relevant tissues, inferring causality is difficult. We therefore outline the use of Mendelian randomisation (MR) as one method able to assess causality in epigenetic studies of T2D.</p><p><strong>Summary: </strong>Epidemiological studies have been fruitful in identifying epigenetic markers of T2D. Triangulation of evidence including utilisation of MR is essential to delineate causal from non-causal biomarkers of disease. Understanding the causality of epigenetic markers in T2D more fully will aid prioritisation of CpG sites as early biomarkers to detect disease or in drug development to target epigenetic mechanisms in order to treat patients.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00176-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37819875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Genomics to Clinical Practice in Haematological Malignancy","authors":"C. Veenstra, D. Bruce, A. Timbs, A. Hamblin","doi":"10.1007/s40142-019-00179-2","DOIUrl":"https://doi.org/10.1007/s40142-019-00179-2","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00179-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46238256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}