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Polygenic Risk Scores in Practice
The Numbers Clinicians Need from Statistical Genetics

Book Details
About this book:

Polygenic Risk Scores in Practice For decades, clinical genetics meant hunting single, high-penetrance mutations. Today, the standard of care is shifting toward polygenic risk scores (PRS)—probabilistic tools built from millions of variants that quantify a patient’s baseline liability for common diseases long before symptoms appear. Yet most clinicians lack the statistical literacy to evaluate the commercial reports flooding their inboxes: *How was this percentile calculated? Does this odds ratio actually change my management? Will this score mislead my patient of non-European ancestry?* **Polygenic Risk Scores in Practice** is the definitive quantitative manual that translates the language of statistical genetics—effect sizes, shrinkage, LD modeling, liability thresholds, and SNP heritability—into the numbers that drive bedside decisions.

Moving rigorously from Fisher’s infinitesimal model to the omnigenic architecture of complex disease, this text demystifies the pipelines that turn GWAS summary statistics into clinical metrics. You will learn why a significant C-statistic rarely equals clinical utility, mastering Net Reclassification Improvement (NRI) and Decision Curve Analysis (DCA) to prove a test actually benefits patients. Disease-specific chapters—spanning coronary artery disease, diabetes, breast and prostate cancer, psychiatric and neurological disorders—demonstrate exactly how to integrate PRS with monogenic findings, traditional risk calculators (like ASCVD or Gail), and modifiable lifestyle factors to refine screening intervals, guide statin initiation, and stratify surveillance.

Crucially, this book confronts the field’s hardest problems head-on: the portability crisis across diverse ancestries, the calibration gaps between population metrics and individual reality, and the regulatory frameworks governing laboratory-developed tests. Whether you are counseling a patient in the 99th percentile of genetic risk, calculating the number needed to screen for tailored prevention, or validating a new assay for your health system, *Polygenic Risk Scores in Practice* provides the statistical authority to move beyond marketing claims and practice evidence-based, mathematically sound, patient-centered precision medicine.

Table of Contents:
  • Introduction
  • Chapter 1 Foundations of Polygenic Architecture: From Monogenic Traits to Complex Disease
  • Chapter 2 Statistical Genetics Primer: Genome-Wide Association Studies and Summary Statistics
  • Chapter 3 Constructing the Score: Effect Sizes, Linkage Disequilibrium, and Shrinkage Methods
  • Chapter 4 Understanding Odds Ratios and Hazard Ratios in Genetic Contexts
  • Chapter 5 Absolute Risk vs. Relative Risk: Translating Scores for Clinical Decision-Making
  • Chapter 6 Calibration and Goodness-of-Fit: Ensuring Population Metrics Match Reality
  • Chapter 7 Discrimination and the Limits of the C-Statistic in Polygenic Prediction
  • Chapter 8 Lifetime Risk Curves and the Dynamics of Age-Dependent Penetrance
  • Chapter 9 The Portability Problem: Trans-Ancestry Generalizability and Cross-Population Performance
  • Chapter 10 Polygenic Risk in Coronary Artery Disease: Statins, Lifestyle, and Stratification
  • Chapter 11 Genetic Susceptibility to Hypertension and Stroke: Quantitative Predictive Gains
  • Chapter 12 Type 2 Diabetes Prediction: Integrating Genomic Weights with Fasting Glucose and HbA1c
  • Chapter 13 Breast and Ovarian Cancer: Stratifying Screenings Alongside Monogenic Pathogenic Variants
  • Chapter 14 Colorectal Cancer Risk: Enhancing Screening Intervals with Quantitative Genomics
  • Chapter 15 Prostate Cancer PRS: Improving the Predictive Utility of PSA Testing
  • Chapter 16 Autoimmune and Inflammatory Disorders: Interpreting Complex MHC and Non-MHC Architecture
  • Chapter 17 Psychiatric Genetics in the Clinic: Liability Thresholds for Schizophrenia and Depression
  • Chapter 18 Common Neurological Conditions: Polygenic Dynamics in Alzheimer's and Parkinson's Disease
  • Chapter 19 Combining Polygenic Risk Scores with Monogenic Variants: Additive and Modifying Effects
  • Chapter 20 Multivariable Risk Algorithms: Merging Genetics with Classical Clinical Risk Calculators
  • Chapter 21 Net Reclassification Improvement and Decision Curve Analysis: Measuring Clinical Utility
  • Chapter 22 Clinical Actionability and Number Needed to Screen: Economic and Patient Outcomes
  • Chapter 23 Communicating Genetic Probabilities: Visualizing Percentiles, Uncertainty, and Likelihoods
  • Chapter 24 Laboratory Reporting Standards, Analytical Validation, and Regulatory Frameworks
  • Chapter 25 The Future of Polygenic Medicine: Multi-Omic Integration, Rare Variants, and Precision Care
Extended Catalog title. This book is part of our extended catalog and is sourced after you order. Usually this process takes less than an hour to a few hours. We'll email you when your ebook is ready.
Author:

Jeremy D. Phillips

Published By:

MixCache.com Extended Catalog

Type:

Nonfiction

Date Published:

September 27, 2026

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