The Busy Physician's Guide To Genetics, Genomics and Personalized Medicine

Have Limited Penetrance. 3.4 The ACCE And EGAPP Projects Evaluate Emerging Genetic Tests. 3.5 Assessing The Usefulness Of A Genomic Test. 3.6 Even An Informative Genetic Test May Have Limited Clinical Utility. 3.7 Single Nucleotide Polymorphisms (SNPs) Are The Most Commonly Tested Polymorphisms. 3.8 There Are Many Small Deletions And Insertions In Different People's DNA. 3.9 Repeated Sequence Length Polymorphisms And Microsatellite Analysis. 3.10 Chromosome Rearrangements Can Contribute To Some Complex Disorders. 3.11 Copy Number Variation Is Surprisingly Frequent. 3.12 It Is Sometimes Necessary To Determine The Level Of Activity In Specific Genes. 3.13 Mitochondrial DNA Variants Are Also Relevant. 3.14 Many Epigenetic Factors That Influence Gene Activity Are Amenable To Testing. 3.15 Some Tests Assess Characteristics Of The Pathogen. 3.16 Cancer Analyses Often Must Include Somatic Mutations As Well As Germline Mutations. 3.17 Predictive Algorithms Must Include Both Genetic And Nongenetic Factors. 3.18 Genome-Wide Association (GWA) Studies Provide Insights Into The Mechanisms For Disease, But Their Results Are Often Not Clinically Useful. 3.19 A Brief Introduction To The Most Important Technological Advances. 4 TOWARD THE SAFER AND MORE EFFECTIVE USE OF PRESCRIPTION DRUGS: PHARMACOGENETICS. 4.1 Genetic Polymorphisms Affect Both The Pharmacokinetics And Pharmacodynamics Of Many Prescription Drugs. 4.2 Improving On The Disease-Oriented Approach To Prescribing Drugs. 4.3 Limitations Of Genetic Testing. 4.4 Dose-Calculating Algorithms Must Take Genetic And Nongenetic Factors Into Account. 4.5 Epigenetic Factors Must Be Factored Into Many Algorithms As Well. 4.6 Polymorphisms In The CYP450 Genes Influence The Pharmacokinetics Of Many Commonly Prescribed Drugs.4.7 Other Functional Polymorphisms That Affect The Pharmacokinetics Of Multiple Drugs. 4.8 Polymorphisms In The Genes Encoding Beta-Adrenergic Receptors Influence The Pharmacodynamics Of Beta-Blockers. 4.9 Keeping Up To Date With FDA Approvals And The Status Of The Field. 5 TAKING A PERSONALIZED MEDICINE APPROACH TO BREAST AND COLON CANCER. 5.1 Cancer Is A Complex Genetic Disease. 5.2 Breast Cancer Gene Variants With Low Penetrance. 5.3 Further Research Will Increase Accuracy And Standardize Risk-Estimating Algorithms. 5.4 Useful Online Programs To Calculate Breast Cancer Risk. 5.5 Highly Penetrant Breast Cancer Gene Variants. 5.6 Hereditary Breast-Ovarian Cancer Syndrome. 5.7 BRCA Gene Testing. 5.8 Effects Of Possessing Risk-Increasing BRCA Alleles. 5.9 Cancer Screening and Prevention Measures For Female BRCA Variant Carriers 5.10 BRCA Mutation Positive Case Study. 5.11 Colon Cancer Gene Variants With Low Penetrance. 5.12 Highly Penetrant Colorectal Cancer Gene Variants. 5.13 Lynch Syndrome 5.14 Molecular Genomic Testing In Patients Suspected Of Having Lynch Syndrome. 5.15 Cancer Screening and Prevention Measures For LS Mutation Carriers. 5.16 Familial Adenomatous Polyposis. 5.17 APC Mutation Screening In Familial Adenomatous Polyposis. 5.18 Cancer Screening and Prevention Measures For APC Mutation Carriers. 5.19 Personalizing Drug Therapy For Cancer Patients. 6 PERSONALIZING RISK ASSESSMENTS AND TREATMENTS FOR COMPLEX CARDIOVASCULAR DISEASE. 6.1 Cardiovascular Diseases Are Complex, Multifactorial Diseases With Highly Variable Phenotypes. 6.2 Family History And CVD Risk. 6.3 Useful Online Programs To Estimate Heart Disease Risk. 6.4 CVD-Associated Gene Variants Have Been Particularly Difficult To Identify. 6.5 Most CVD-Associated Gene Variants Have Low Penetrance. 6.6 Low-Penetrance Gene Variants That Affect Predisposing Phenotypes. 6.7 Jameer's Story. 6.8 CVD Gene Variants With High Penetrance: Familial Hypercholesterolemia (FH). 6.9 Molecular Genomic Testing In Patients Suspected Of Having FH. 6.10 CVD Gene Variants With High Penetrance: Hypertrophic Cardiomyopathy (HCM). 6.11 Therapy and Prevention Measures For HCM Mutation Carriers. 6.12 Genes Influencing The Risk For Other Cardiomyopathies. 6.13 Cardiovascular Pharmacogenomics. 7 OTHER MULTIFACTORIAL DISORDERS FOR WHICH GENETIC/GENOMIC TESTING IS PROVIDING INSIGHTS. 7.1 Age-Related Macular Degeneration. 7.2 Type 2 Diabetes. 7.3 Personalizing The Approach To Psychiatric Disorders. 7.4 Personalizing The Treatment For Substance Abuse. 7.5 Alzheimer Disease And Cognitive Decline In Aging. 7.6 Asthma And Other Respiratory Disorders. Epilogue

future tests and treatments. Their writing style is simple without being oversimplified. Beginning with an explanation of genomic variability, and how such variation may explain varying disease susceptibility, all the way to how to make the most of a family history, what types of genetics tests are available and how to interpret the results, Sweet and Michaelis have constructed a reference text that edifies without overwhelming. They provide physicians with places to go to read and learn more about a given topic should they choose to.

 

For Genome Technology's December 2010/January 2011 issue, I reviewed Brandon Colby's Outsmart Your Genes, a book about medical genetics aimed at patients. At the time, I said that the book, though admirable in its intent to educate patients, became oversimplified, and that the author could have better served his intent by writing a book to get physicians thinking about using genetics in their practices. Now, The Busy Physician's Guide does just that.