Jeanette McCarthy,
Bryce Mendelsohn
McGraw-Hill Education
e druk, 2017
9781259644139
Precision Medicine: A Guide to Genomics in Clinical Practice
Specificaties
Paperback, blz.
|
Engels
McGraw-Hill Education |
2017
ISBN13: 9781259644139
Rubricering
Levertijd ongeveer 11 werkdagen
Gratis verzonden
Samenvatting
Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide
A Doody's Core Title for 2024 & 2022!
Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice.
Features that make this book valuable to every practice:Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision supportFollows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stageOrganization allows healthcare providers to quickly and easily find the information relevant to their practice.The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcareEnhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement
If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.
Specificaties
Inhoudsopgave
<p><B><span>Chapters 1-4: Pregnancy and childhood</SPAN></B></P><p><B><span>Chapter 1: Preconception</SPAN></B></P><p><span>What are the applications of precision medicine in the preconception period?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Infertility</SPAN><LI style="MARGIN: 3pt 0in"><span>Carrier screening – traditional and expanded</SPAN><LI style="MARGIN: 3pt 0in"><span>Genetic counselling, reimbursement, where to get tested</SPAN><LI style="MARGIN: 3pt 0in"><span>Future prospects: Preimplantation genetic testing</SPAN></LI></UL><p><B><span>Chapter 2: Pregnancy</SPAN></B></P><p><span>What are the applications of precision medicine during pregnancy?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Triple/quad screening</SPAN><LI style="MARGIN: 3pt 0in"><span>Amniocentesis/CVS</SPAN><LI style="MARGIN: 3pt 0in"><span>Trisomy testing using non-invasive (cfDNA) methods </SPAN><LI style="MARGIN: 3pt 0in"><span>Future prospects: expanded uses of cfDNA testing during pregnancy</SPAN></LI></UL><p><B><span>Chapter 3: The Newborn </SPAN></B></P><p><span>What are the applications of precision medicine in the newborn period? What are the situations when a clinician should consider a genetic diagnosis, what tests are commonly used, what evaluation can be performed by the non-specialist versus when to refer to a specialist.</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Mandatory newborn screening</SPAN><LI style="MARGIN: 3pt 0in"><span>Broad classification and evaluation of birth defects</SPAN><LI style="MARGIN: 3pt 0in"><span>Broad classification and evaluation of metabolic disease</SPAN><LI style="MARGIN: 3pt 0in"><span>Future prospects: Sequencing from birth</SPAN></LI></UL><p><B><span>Chapter 4: Childhood and Adolescence</SPAN></B></P><p><span>What are the applications of precision medicine during childhood and adolescence?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Autism and Developmental delay</SPAN><LI style="MARGIN: 3pt 0in"><span>Childhood cancer (hereditary cancer)</SPAN><LI style="MARGIN: 3pt 0in"><span>Rare diseases and diagnostic sequencing</SPAN><LI style="MARGIN: 3pt 0in"><span>Support and advocacy for rare diseases</SPAN></LI></UL><p><B><span>Chapters 5-9: Adulthood</SPAN></B></P><p><B><span>Chapter 5: Pharmacogenetics</SPAN></B></P><p><span>What pharmacogenetic tests are available? How valid and useful are they?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Types of pharmacogenetic markers</SPAN><UL style="MARGIN-TOP: 0in" type=circle><LI style="MARGIN: 3pt 0in"><span>Efficacy-based, companion diagnostics</SPAN><LI style="MARGIN: 3pt 0in"><span>Safety-based, avoiding severe adverse events</SPAN><LI style="MARGIN: 3pt 0in"><span>Dosing-based</SPAN></LI></UL><LI style="MARGIN: 3pt 0in"><span>Understanding CYP450 alleles</SPAN><LI style="MARGIN: 3pt 0in"><span>Sources of information about pharmacogenetic tests</SPAN><UL style="MARGIN-TOP: 0in" type=circle><LI style="MARGIN: 3pt 0in"><span>Drug labels</SPAN><LI style="MARGIN: 3pt 0in"><span>Evidence guidelines</SPAN><LI style="MARGIN: 3pt 0in"><span>PharmGKB, Dutch group</SPAN></LI></UL></LI></UL><p><B><span>Chapter 6: Heart Disease</SPAN></B></P><p><span>How is precision medicine being applied in heart disease?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Predisposition/diagnostic testing for myocardial infarction, thrombosis risk, arrhythmias</SPAN><LI style="MARGIN: 3pt 0in"><span>The utility of prognostic markers (e.g. CardioDx test)</SPAN><LI style="MARGIN: 3pt 0in"><span>Managing dose, efficacy and side effects of cardiovascular drugs using pharmacogenomics</SPAN><UL style="MARGIN-TOP: 0in" type=circle><LI style="MARGIN: 3pt 0in"><span>Clopidogrel, Warfarin, Simvastatin</SPAN></LI></UL></LI></UL><p><B><span>Chapter 7: Infectious disease</SPAN></B></P><p><span>How is precision medicine being applied in infectious disease?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in; LINE-HEIGHT: normal"><span>Managing dose, efficacy and side effects of ID drugs using pharmacogenomics</SPAN></LI></UL><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Tracking outbreaks, pathogen discovery</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Future prospects: diagnostic sequencing</SPAN></P><p><B><span>Chapter 8: Cancer</SPAN></B></P><p><span>How is precision medicine being applied in cancer?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Diagnostic/predisposition testing for Hereditary cancers</SPAN><UL style="MARGIN-TOP: 0in" type=circle><LI style="MARGIN: 3pt 0in"><span>HBOC, Lynch Syndrome, rare hereditary cancer syndromes</SPAN></LI></UL><LI style="MARGIN: 3pt 0in"><span>Managing dose, efficacy and side effects of cancer drugs using pharmacogenetics</SPAN><UL style="MARGIN-TOP: 0in" type=circle><LI style="MARGIN: 3pt 0in"><span>Irinotecan, Belinostat, Azothioprine, Capecitaban, Tamoxifen, Oliparib</SPAN></LI></UL><LI style="MARGIN: 3pt 0in"><span>The genetic landscape of tumors</SPAN><LI style="MARGIN: 3pt 0in"><span>Prognostic markers</SPAN><LI style="MARGIN: 3pt 0in"><span>Targeted treatment and companion diagnostics</SPAN><LI style="MARGIN: 3pt 0in"><span>Tumor profiling and expanded treatment options</SPAN><LI style="MARGIN: 3pt 0in"><span>Future prospects: cfDNA for screening, diagnosing and monitoring cancer</SPAN></LI></UL><p><B><span>Chapter 9: The Brain - Mental Health and Neurodegeneration</SPAN></B></P><p><span>How is precision medicine being applied in mental health and neurodegenerative disease?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Predisposition/diagnostic testing for epilepsies, Alzheimer, Parkinson diseases</SPAN><LI style="MARGIN: 3pt 0in"><span>Managing dose, efficacy and side effects of antidepressant, antipsychotic, anti-seizure drugs using pharmacogenomics</SPAN></LI></UL><p></P><B><span><BR style="PAGE-BREAK-BEFORE: always" clear=all></SPAN></B><p><B></B></P><p><B><span>Appendices. Conceptual framework for understanding genomic and precision medicine</SPAN></B></P><p><B><span>Appendix 1: Genome variation</SPAN></B></P><p><span>Describes the structure and organization of the human genome and the different types of variation, their consequences and distribution in different populations</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>DNA, RNA, Protein variation</SPAN><LI style="MARGIN: 3pt 0in"><span>Origin and types of genetic (DNA) variation (from big to small)</SPAN><LI style="MARGIN: 3pt 0in"><span>Consequences of genetic variation </SPAN><LI style="MARGIN: 3pt 0in"><span>Patterns of genetic variation across populations and ancestry</SPAN></LI></UL><p><B><span>Appendix 2: Laboratory methods to detect genome variation</SPAN></B></P><p><span>A roadmap of different testing methods that a practitioner may come across, what they can measure, and what are their limitations. <I>Includes sample test requisitions and reports with graphical interpretation</I>.</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>DNA variation (aCGH, karyotyping, FISH,Targeted genotyping, SNP arrays, Sanger and next-gen sequencing -whole genome, whole exome, panel)</SPAN><LI style="MARGIN: 3pt 0in"><span>The unique mitochondrial genome</SPAN><LI style="MARGIN: 3pt 0in"><span>RNA variation (QrtPCR, Transcript arrays, next-gen sequencing)</SPAN><LI style="MARGIN: 3pt 0in"><span>Protein variation (IHC, mass spectrometry)</SPAN><LI style="MARGIN: 3pt 0in"><span>Epigenome variation (Bisulfite sequencing)</SPAN><LI style="MARGIN: 3pt 0in"><span>How to find a testing laboratory (general information, specifics discussed within each disease type)</SPAN></LI></UL><p><B><span>Appendix 3: Genetic variation and disease</SPAN></B></P><p><span>How is genetic variation related to disease? </SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Inheritance patterns</SPAN><LI style="MARGIN: 3pt 0in"><span>Penetrance, expressivity, environmental influences</SPAN><LI style="MARGIN: 3pt 0in"><span>Family history: why it still matters</SPAN></LI></UL><p><B><span>Appendix 4: Evidence base </SPAN></B></P><p><span>How do we know if a gene-trait association is valid or clinically useful?</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Evaluating the evidence</SPAN></P><p><span><SPAN>o<span> </SPAN></SPAN></SPAN><span>Establishing the role of the gene in disease</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Clinical validity (PPV, NPV)</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Clinical utility (cost effectiveness, comparative effectiveness)</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Where to find evidence, information and practice guidelines</SPAN></P><p><span>How do we determine pathogenicity of variants in a diagnostic setting?</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Different types of evidence used in variant classification</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>ACMG framework for variant classification</SPAN></P><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Clinvar and other variant databases</SPAN></P><p><B><span>Appendix 5: Regulation and reimbursement</SPAN></B></P><p><span>How do regulation and reimbursement play a role in the delivery of precision medicine?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>US FDA and genetic testing</SPAN><LI style="MARGIN: 3pt 0in"><span>Insurance coverage of genomic tests in the US</SPAN></LI></UL><p><span><SPAN>·<span> </SPAN></SPAN></SPAN><span>Access to genetic testing</SPAN></P><p><B><span>Appendix 6: Cross-cutting ethical issues</SPAN></B></P><p><span>What key ethical issues to be aware of
with genetic testing?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Secondary/incidental findings</SPAN><LI style="MARGIN: 3pt 0in"><span>Discrimination and GINA</SPAN><LI style="MARGIN: 3pt 0in"><span>Privacy and sharing</SPAN><LI style="MARGIN: 3pt 0in"><span>Testing minors</SPAN><LI style="MARGIN: 3pt 0in"><span>Population screening</SPAN><LI style="MARGIN: 3pt 0in"><span>Eugenics and disability rights</SPAN><LI style="MARGIN: 3pt 0in"><span>How to gather appropriate informed consent</SPAN></LI></UL>
with genetic testing?</SPAN></P><UL style="MARGIN-TOP: 0in" type=disc><LI style="MARGIN: 3pt 0in"><span>Secondary/incidental findings</SPAN><LI style="MARGIN: 3pt 0in"><span>Discrimination and GINA</SPAN><LI style="MARGIN: 3pt 0in"><span>Privacy and sharing</SPAN><LI style="MARGIN: 3pt 0in"><span>Testing minors</SPAN><LI style="MARGIN: 3pt 0in"><span>Population screening</SPAN><LI style="MARGIN: 3pt 0in"><span>Eugenics and disability rights</SPAN><LI style="MARGIN: 3pt 0in"><span>How to gather appropriate informed consent</SPAN></LI></UL>