JAMA Insights: Genomics and Precision Health

Precision medicine is a rapidly evolving approach to disease treatment and prevention that matches treatments to patients based on individual genetic variability. To help clinicians understand the latest developments in precision medicine so they can make the most informed decisions for their patients JAMA in 2017 is publishing a series of essays to explain the state of the field, its concepts, and technologies.

Browse all articles related to Genetics and Genomics across the JAMA Network at

Genetics and Genomics Collections

Series Articles

Introducing "Genomics and Precision Health"

William Gregory Feero

JAMA | Editorial, May 9, 2017

Finding the Rare Pathogenic Variants in a Human Genome CME

James P Evans and Coauthors

JAMA | JAMA Insights, May 9, 2017

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders CME

Christa Lese Martin and David H. Ledbetter

JAMA | JAMA Insights, June 27, 2017

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing CME

Joshua W. Knowles and Coauthors

JAMA | JAMA Insights, July 25, 2017

Preimplantation Genetic Diagnosis for Mendelian Conditions CME

Siobhan M. Dolan and Coauthors

JAMA | JAMA Insights, September 5, 2017

Cancer DNA in the Circulation: The Liquid Biopsy CME

Hatim Husain and Victor E. Velculescu

JAMA | JAMA Insights, October 3, 2017

Mendelian Randomization CME

Connor A. Emdin and Coauthors

JAMA | JAMA Guide to Statistics and Methods, November 21, 2017

Treating Specific Variants Causing Cystic Fibrosis

Garry R. Cutting

JAMA | JAMA Insights, December 5, 2017

Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy

Timothy Ley and David H. Spencer

JAMA | JAMA Insights, April 10, 2018

Noninvasive Prenatal Genetic Screening Using Cell-free DNA

Megan A. Allyse and Myra J. Wick

JAMA | JAMA Insights, July 30, 2018

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition

Leslie G. Biesecker and Coauthors

JAMA | JAMA Insights, October 15, 2018

Next-Generation Sequencing of Infectious Pathogens

Marta Gwinn and Coauthors

JAMA | JAMA Insights, February 14, 2019

What Are Polygenic Scores and Why Are They Important?

Leo P. Sugrue and Rahul S. Desikan

JAMA | JAMA Insights, April 8, 2019

Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations

Nicola Whiffin and Coauthors

JAMA | JAMA Insights, August 30, 2019

Genetic Ancestry Testing: What Is It and Why Is It Important?

Lynn B. Jorde and Michael J. Bamshad

JAMA | JAMA Insights, February 14, 2020

Glossary of Genomics Terms

Allele: Alternative form of a gene or DNA sequence. Variations in clinical traits and phenotypes are allelic if they arise from the same gene sequence or locus and nonallelic if they arise from different gene sequences of different loci.
Allelism: Whether a second variant (allele) is on the same or the other chromosomal copy in a dominant or recessive condition.
Alternative splicing: Use of different exons in formation of mRNA from initially identical transcripts. This results in the generation of related proteins from 1 gene, often in a tissue or developmental stage–specific manner.
Analytical validity: The likelihood that a test result is correct, ie, a specific variant said to be present is present or said to be absent is absent.
Aneuploidy: The occurrence of one or more extra or missing chromosomes leading to an unbalanced chromosome complement or any chromosome number that is not an exact multiple of the haploid number.
Array: See Microarray.
Attributable risk: The difference in incidence of disease in an exposed vs unexposed population; in genetics the exposure can be the presence of a specific genetic variation in the genome.
Bacteriophage: Viruses whose hosts are bacterial cells.
Base pair (bp): Two complementary nucleotides that are paired in double-stranded DNA. Adenosine (A) pairs with thymine (T), and guanine (G) pairs with cytosine (C). A bp is also used as a physical distance of length of a sequence of nucleotides, eg, 20 bp is a chain of DNA composed of 20 nucleotides.
Call rate: The rate at which assignment of a specific nucleotide base (A,G,C,T) is made at specific positions in the genome during genotyping or sequencing.
Candidate gene: A gene believed to influence expression of complex phenotypes due to known biological and/or physiological properties of its products, or to its location near a region of association or linkage.
Carrier screening: Testing of members of a population for genetic variations associated with genetic conditions (usually autosomal recessive disorders) often for the purpose of reproductive planning.
Cascade screening: A systematic process for identifying individuals with a medical condition. In genetics, the process begins with an affected family member and entails iterative rounds of testing of closely related relatives, followed by testing of close relatives of those newly discovered as affected.
cDNA (complementary DNA): A DNA copy of the messenger RNA (mRNA) transcribed from a gene. The cDNA is made from the mRNA using the enzyme reverse transcriptase.
Cell free DNA (cfDNA): Fragments of DNA circulating in the blood outside of cells.
Circulating tumor DNA (ctDNA): Fragments of DNA derived from cancer cells circulating in the blood outside of cells.
Clinical utility: The degree to which a test result guides clinical management and improves patient outcomes.
Clinical validity: The likelihood that a test result correctly predicts presence or absence of disease or risk of disease.
Coding region: Segments of the genome that contain information specifying the amino acid sequence in proteins.
Codon: Three bases in a DNA or RNA sequence that specify a single amino acid.
Copy number variants: Stretches of genomic sequence of roughly 1 kb to 3 Mb in size that are deleted or are duplicated in varying numbers.
Comparative genomic hybridization (CGH) also array CGH: Technology wherein a DNA test sample is competitively hybridized with a reference sample of DNA of known sequence to a DNA microarray, used to detect copy number changes in the test sample.
Complex trait: A trait that has a genetic component that does not follow strict mendelian inheritance. It may involve the interaction of 2 or more genes or gene-environment interactions.
Coverage: The number of times a portion of the genome is sequenced in a sequencing reaction. Often expressed as “depth of coverage” and numerically as 1X, 2X, 3X, etc.
Cytogenetics: The study of the biology of large-scale DNA structure, usually at the level of chromosomes.
Cytogenomic analysis: Technologies that assess the presence of copy number variants at locations throughout the genome, one example of which is comparative genomic hybridization.
Deletion: A type of genetic variation in which nucleotides are lost in a sequence. Deletions may range from 1 nucleotide to millions.
Denaturing high-performance liquid chromatography (DHPLC): A high-performance liquid chromatography instrument uses temperature-dependent separation of DNA containing mismatched base pairs from PCR-amplified DNA fragments for chromatographic variant analysis.
Digital polymerase chain reaction: A method for assaying or amplifying quantities of target DNA or RNA in a sample in which the reactions are partitioned to include single or small numbers of target sequences.
DNA barcoding: A method that uses a short genetic marker in an organism’s DNA to identify it as belonging to a particular species.
Environmental gene tag: Short sequences of DNA that contain bacterial genes in whole or part that can be used to aid in identification of related genetic material.
Exome: The entire portion of the genome consisting of protein-coding sequences (as opposed to introns or noncoding DNA between genes).
Exome sequencing (or whole exome sequencing, WES): A method for determining the base pair order of the protein coding regions of an organism’s DNA. Often used in diagnostic studies both because most disease-related variants occur in protein-coding regions and because it is generally less costly than whole-genome sequencing.
Exon: Any segment of a gene that is represented in the mature messenger RNA (mRNA) product.
Fetal Fraction: When referring to cell-free DNA (cfDNA), the percentage of cfDNA in maternal blood of fetal origin.
Fluorescent in situ hybridization (FISH): A cytogenetic technique in which fluorescently labeled probes capable of binding to specific DNA regions are used to detect structural variations in the genome.
Frame shift mutation: Any variation that disrupts the normal sequence of triplets causing a new sequence to be created that codes for different amino acids. Frame shift mutations are usually caused by an insertion or deletion of DNA and typically eventually produce a premature stop codon.
G-banding: A method for Giemsa staining of condensed human chromosomes from metaphase cells that allows assessment of chromosomal structure by light microscopy.
GC content: The percentage of nucleotides in a DNA sequence that are either guanine (G) or cytosine (C).
Genetic heterogeneity: A shared phenotype caused by more than 1 gene.
Genetic Information Nondiscrimination Act (GINA): US federal law passed in 2008 prohibiting the use of genetic information for decisions regarding employment or health insurance.
Genome: The sum total of the genetic material of a cell or an organism.
Genome annotation: Attachment of biological information to DNA sequence data.
Genome-wide analysis: A genetic study evaluating the potential linkage of genetic markers located throughout the genome to a specific trait. This approach has been used for mendelian (single-gene) disorders as well as complex traits (genome-wide association study [GWAS]).
Genomic inflation factor: A mathematical term from genetic epidemiology used to control for population stratification in GWAS.
Genomic medicine: A term used to describe medical advances and approaches based on human genomic information, sometimes referred to as personalized or precision medicine.
Genomics: The study of genes and their function.
Genotype: The specific set of 2 alleles inherited at a genetic locus.
Haplotype: The combination of linked marker alleles (variants) for a given region of DNA on a single chromosome.
HapMap: The International HapMap Project developed a haplotype map of the human genome, the HapMap, that describes the common patterns of human DNA sequence variation. The HapMap is a key resource for finding genes affecting health, disease, and responses to drugs and environmental factors. The first release of the HapMap was made in 2005.
Heterologous expression: A research technique that causes a protein to be produced in a cell that does not normally make (ie, express) that protein.
Heterozygous (heterozygosity): Having 2 unlike alleles at a particular locus.
Homozygous (homozygosity): Having 2 like or identical alleles at a particular locus in a diploid genome.
Human Genome Project: Collective name for several projects begun in 1986 by the US Department of Energy (DOE) and the National Institutes of Health (NIH) to create an ordered set of DNA segments from known chromosomal locations, develop new computational methods for analyzing genetic map and DNA sequence data, and develop new techniques and instruments for detecting and analyzing DNA. The joint national effort, led by DOE and the NIH, was known as the Human Genome Project. The first draft of the human genome DNA sequence, produced by the efforts of the Human Genome Project, was completed in 2001. The Human Genome Project officially ended in April 2003.
Hybridization: The bonding of single-stranded DNA or RNA into double-stranded DNA or RNA. The ability of complementary stretches of DNA or RNA to hybridize with each other is dependent on the base-pair sequence.
Identity by descent (IBD): The property of 2 or more alleles that are identical to an ancestral allele, used in gene association studies
Imputation: A statistical method for inferring genotypes that are not directly measured.
Indel (insertion/deletion): Variations in a genome including insertions and deletions of nucleotides.
Insertion: A type of genetic variation in which nucleotides are gained in a sequence. Insertions may range from 1 nucleotide to millions.
Intron: A segment of DNA that is transcribed into RNA but is ultimately removed from the transcript by splicing together the sequences on either side (exons) to produce messenger RNA (mRNA).

Karyotype: A description or visual representation of the complement of condensed chromosomes from a cell.
Kilobase (kb): One thousand base pairs of DNA or RNA.
Library: A complete set of clones that contains all the genetic material from an organism, tissue, or specific cell type at a specific stage of development.
Linkage: Two loci (genes or other designated DNA sequence) that reside close enough to each other that recombination (crossing over) rarely occurs between them. Alleles at the 2 loci do not assort independently at meiosis but are likely to be inherited together.
Linkage disequilibrium: Refers to alleles at loci close enough that they remain inherited together through many generations because their extreme proximity makes recombination (crossing over) between them highly unlikely.
Locus (plural loci): The physical site on a chromosome occupied by a particular gene or other identifiable DNA sequence characteristic.
Mendelian disorder (single-gene disorder): A trait or disease that follows the patterns of inheritance that suggest the trait or disease is determined by a gene at a single locus.
Metagenomics: Study of a collection of genetic material (genomes) from a mixed community of organisms. Metagenomics usually refers to the study of microbial communities.
Metaphase: A phase of cell division (mitosis) during which DNA is condensed into chromosomal structures that can be visualized using light microscopy.
Methylation: Covalent attachment of methyl groups to DNA, usually at cytosine bases. Methylation can reduce transcription from a gene and is a mechanism in X-chromosome inactivation and imprinting.
Microarray: A technology used to study many genes simultaneously, usually consisting of an ordered microscopic pattern of known nucleic acid sequences on a glass slide. In a common type of microarray, a sample of DNA or RNA is added to the slide and sequence-dependent binding is measured using sensitive fluorescent detection methods.
Microsatellite: A short, repetitive sequence of DNA of variable length that may serve as a marker to follow inheritance or, in tumor DNA, as an indicator of genome instability.
Minor allele: The allele of a biallelic locus that is less frequent in the study population. Minor allele frequency refers to the proportion of the less common of 2 alleles in a population (with 2 alleles carried by each person at each autosomal locus) ranging from less than 1% to less than 50%.
Missense mutation: A variation that is typically the change of a single nucleotide that results in the substitution of one amino acid for another in the final gene product.
Mutation: Any variation of a gene or genetic material from its natural state. Generally, mutations refer to changes that alter the gene in a negative sense, causing the protein product of the gene to have an altered function. (See also variant.)
Next-generation/high-throughput/massively parallel sequencing: DNA sequencing technology that permits rapid sequencing of large portions of the genome; so called because it vastly increases the throughput over classic Sanger sequencing.
Nonsense mutation: Any variation that results directly in the formation of a stop codon.
Nonsynonymous variant: A variant that results in a change in the amino acid sequence of a protein (and therefore may affect the function of the protein).
Nucleotide: The combination of a nitrogen-containing base, a 5-carbon sugar, and phosphate group forming the A, G, C, T of the sequence of DNA, for example.
Oncogene: A gene of which 1 or more forms is associated with the development of cancer. Many oncogenes are involved, directly or indirectly, in controlling the rate of cell growth.
Penetrance: The proportion of individuals of a given genotype who show any evidence of the associated phenotype.
Pharmacogenetic variant: Genetic changes that alter the way an individual metabolizes or responds to a specific medication.
Pharmacogenomics: Study of genes related to genetic controlled variation in drug responses.
Phenotype: The total observable nature of an individual, resulting from interaction of the genotype with the environment.
Plasmid: Circular extrachromosomal DNA molecules in bacteria that can independently reproduce. Plasmids can be used as vectors in recombinant DNA research, and they can contain genes important to bacterial virulence such as antibiotic resistance in nature.
Preimplantation genetic diagnosis: testing of embryos for specific genetic abnormalities for which the prospective parents are known to be at risk; performed prior to selective reintroduction of unaffected embryos to the female reproductive tract
Preimplantation genetic screening: a screening test that seeks to determine the presence of aneuploidy (either too many or too few chromosomes) in a developing embryo prior to selective reintroduction of unaffected embryos to the female reproductive tract
Polymerase chain reaction (PCR): A procedure in which segments of DNA (including DNA copies of RNA) can be amplified using flanking oligonucleotides called primers and repeated cycles of replication by DNA polymerase.
Population stratification (also population structure): A form of confounding in genetic association studies caused by genetic differences between cases and controls unrelated to disease but due to sampling them from populations of different ancestries.
Primer: a short strand of nucleotides (RNA or DNA) that helps initiate new DNA synthesis
Proband: The affected person whose disorder, or concern about a disorder, brings a family or pedigree to be genetically evaluated.
Promoter: The sequence of nucleotides located 5′ to the coding sequence of a gene that determines the site for binding of RNA polymerase and the initiation of transcription. More than 1 promoter may be present in a gene and may give rise to different versions of the protein. The promoter may include the DNA sequence TATAA(T)AA(T) (TATA box).
Prophage: The genome of a bacteriophage when it is integrated into the host bacterial genome or a plasmid.
Pyrosequencing: A method of determining the ordering of nucleotide bases in a DNA molecule by measuring the synthesis of the complementary DNA strand.
Quantitative PCR: A PCR-based laboratory technique that allows the accurate measurement of the amount of specific nucleic acids (usually RNA) in a sample.
Read: A discrete segment of sequence information generated by a sequencing instrument; read length refers to the number of nucleotides in the segment.
Recombination: The formation of a new set of alleles on a single chromosome that is not the same as either parent owing to a crossover during meiosis.
Restriction fragment-length polymorphism (RFLP): A type of polymorphism that results from variation in the DNA sequence recognized by restriction enzymes. RFLPs can be used in linkage and gene association studies of traits and diseases.
Single-nucleotide variant (SNV; also known as a single-nucleotide polymorphism, SNP): DNA sequence variations that occur when a single nucleotide (A, T, C, or G) in the genome sequence is altered. SNVs are the most abundant variant in the human genome and are the most common source of genetic variation.
Somatic mutation: A change in the DNA in non-germline cells, for example, new mutations in a tumor.
Stop codon (termination codon): The DNA triplet that causes translation to end when it is found in mRNA. The DNA stop codons are TAG, TAA, and TGA.
Structural mutation: Large-scale change in genomic DNA, for example, chromosomal inversion.
Tag SNV: A readily measured SNV that is in strong linkage disequilibrium with multiple other SNVs so that it can serve as a proxy for these SNVs on large-scale genotyping platforms.
Translocation: A chromosomal segment that has been broken off and reinserted in a different place in the genome.
Transversion: The substitution of a purine for a pyrimidine nucleotide or vice versa (eg, an A for a C or T) in a DNA sequence.
Triploidy: A rare form of aneuploidy in which there are 3 sets of each chromosome in a cell.
Uniparental disomy: The inheritance of both parental copies of a chromosome from one parent and no homologous chromosome from the other parent. The resulting offspring could be affected with a recessive disease if the parent contributing both copies is a carrier.
Variant (polymorphism): Difference in DNA sequence among individuals that may underlie differences in health. Genetic alterations occurring in more than 1% of a population would be considered useful variants for genetic linkage analysis. The vast majority of DNA variants are benign and not associated with a detectable phenotype.
Variant allele fraction: The detected percentage of a variation that is not the reference sequence in a DNA sample derived from a nonclonal sample of cells, for example, a tumor DNA sample.
Variant of unknown significance (VUS): Genetic variant that cannot be definitively determined to be associated with a specific phenotype.
Whole-genome amplification: a process by which the DNA of a organism in a sample can be chemically replicated, in its entirety, multiple times over in order to increase the amount of sample
Whole genome sequencing (WGS): A method for determining the base pair order of both protein-coding and non–protein-coding regions of an organism’s DNA. Current technology can provide a near complete human genome; some regions of the genome remain difficult to sequence.

Editors’ Selections

The Case for Remedial Germline Editing—The Long-term View

Eli Y. Adashi and I. Glenn Cohen

JAMA Health Forum | JAMA Forum, February 27, 2020

The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad

Madison K. Kilbride and Angela R. Bradbury

JAMA | Viewpoint, February 19, 2020

Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease

Joshua Elliott and Coauthors

JAMA | Original Investigation, February 18, 2020

Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease

Jonathan D. Mosley and Coauthors

JAMA | Original Investigation, February 18, 2020

Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease?

Sadiya S. Khan and Coauthors

JAMA | Editorial, February 18, 2020

DNA Prime Editing: A New CRISPR-Based Method to Correct Most Disease-Causing Mutations

Tracy Hampton

JAMA | Bench to Bedside, February 4, 2020

Polygenic Risk, Fitness, and Obesity in the Coronary Artery Risk Development in Young Adults (CARDIA) Study

Venkatesh L. Murthy and Coauthors

JAMA Cardiology | Original Investigation, January 8, 2020

Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study

Shahram Bahrami and Coauthors

JAMA Psychiatry | Original Investigation, January 8, 2020

Be Ready to Talk With Parents About Direct-to-Consumer Genetic Testing

Ellen Wright Clayton

JAMA Pediatrics | Viewpoint, December 30, 2019

Test for HIV Drug–Resistance Mutations

Feyza Sancar

JAMA | News From the Food and Drug Administration, December 17, 2019

Moving From Cancer Burden to Cancer Genomics for Smoldering Myeloma: A Review

Francesco Maura and Coauthors

JAMA Oncology | Review, December 12, 2019

DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps

Michael F. Murray and Coauthors

JAMA | Viewpoint, December 6, 2019

Cardiovascular Disease Prevention at a Crossroads: Precision Medicine or Polypill?

Michael J. Joyner and Nigel Paneth

JAMA | Viewpoint, November 25, 2019

Genome-Wide Association Studies

Xiuqing Guo and Jerome I. Rotter

JAMA | JAMA Guide to Statistics and Methods, November 5, 2019

Mendelian Randomization—A Journey From Obscurity to Center Stage With a Few Potholes Along the Way

Sara Bandres-Ciga and Coauthors

JAMA Neurology | Viewpoint, October 14, 2019

Genome-wide Association of Endophenotypes for Schizophrenia From the Consortium on the Genetics of Schizophrenia (COGS) Study

Tiffany A. Greenwood and Coauthors

JAMA Psychiatry | Original Investigation, October 9, 2019

Imaging the Whole Genome in Diagnosing Neurologic Disorders

Bryce A. Mendelsohn

JAMA Neurology | Viewpoint, October 7, 2019

Association of Genetic Variants Related to Combined Exposure to Lower Low-Density Lipoproteins and Lower Systolic Blood Pressure With Lifetime Risk of Cardiovascular Disease

Brian A. Ference and Coauthors

JAMA | Original Investigation, September 2, 2019

Pathogenic Germline Variants in Patients With Metastatic Breast Cancer

Kelsey Stuttgen and Coauthors

JAMA Oncology | Research Letter, August 29, 2019

Multiomics Prediction of Response Rates to Therapies to Inhibit Programmed Cell Death 1 and Programmed Cell Death 1 Ligand 1

Joo Sang Lee and Eytan Ruppin

JAMA Oncology | Brief Report, August 22, 2019

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force

Heidi D. Nelson and Coauthors

JAMA | US Preventive Services Task Force Evidence Report, August 20, 2019

Hereditary Cancer Evaluation in 2019—a Rapidly Evolving Landscape

Rachel L. Yung and Larissa A. Korde,

JAMA Oncology | Editorial, August 20, 2019

Tackling Epilepsy With High-definition Precision Medicine: A Review

Hugh Kearney and Coauthors

JAMA Neurology | Review, August 5, 2019

Is Genetic Testing for Heart Disease Right for Me?

Tia Moscarello and Coauthors

JAMA Cardiology | JAMA Cardiology Patient Page, July 31, 2019

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

Dan Bai and Coauthors

JAMA Psychiatry | Original Investigation, July 17, 2019

Heritable Genome Editing: Is a Moratorium Needed?

Eli Y. Adashi and I. Glenn Cohen

JAMA | The JAMA Forum, July 9, 2019

Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype

Yiyi Ma and Coauthors

JAMA Neurology | Original Investigation, June 10, 2019

Next Generation Sequencing—Testing Multiple Genetic Markers at Once

Mark D. Ewalt and Coauthors

JAMA Oncology | JAMA Oncology Patient Page, May 30, 2019

Emergence of Hybrid Models of Genetic Testing Beyond Direct-to-Consumer or Traditional Labs

Kathryn A. Phillips and Coauthors

JAMA | Viewpoint, May 30, 2019

Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers

Fida Khater and Coauthors

JAMA Network Open | Original Investigation, April 26, 2019

Estimation of the Required Lipoprotein(a)-Lowering Therapeutic Effect Size for Reduction in Coronary Heart Disease Outcomes: A Mendelian Randomization Analysis

Claudia Lamina and Florian Kronenberg

JAMA Cardiology | Brief Report, April 24, 2019

Using Genetics to Plan Future Randomized Trials of Lipoprotein(a) Lowering—How Much Reduction, for How Long, and in Whom?

George Thanassoulis

JAMA Cardiology | Editorial, April 24, 2019

Direct-to-Consumer Genetic Testing and Potential Loopholes in Protecting Consumer Privacy and Nondiscrimination

Rachele M. Hendricks-Sturrup and Coauthors

JAMA | Viewpoint, April 18, 2019

Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants

Rebecca Voelker

JAMA | Medical News & Perspectives, March 20, 2019

Hopes, Fears, and Deja Vu Regarding Germline Gene Editing

John D. Lantos

JAMA Pediatrics | Viewpoint, March 11, 2019

What Parents Need to Know About Genetic Testing

Marni J. Falk and Megan A. Moreno

JAMA Pediatrics | JAMA Pediatrics Patient Page, February 25, 2019

Association Between ABCB1 Polymorphisms and Outcomes of Clopidogrel Treatment in Patients With Minor Stroke or Transient Ischemic Attack: Secondary Analysis of a Randomized Clinical Trial

Yuesong Pan and Coauthors

JAMA Neurology | Original Investigation, February 11, 2019

Potential Excessive Testing at Scale: Biomarkers, Genomics, and Machine Learning

Kenneth D. Mandl and Arjun K. Manrai

JAMA | Viewpoint, February 8, 2019

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients

Jeffrey A. SoRelle and Coauthors

JAMA Pediatrics | Original Investigation, January 7, 2019

21st-Century Genetics in Psychiatric Residency Training: How Do We Get There?

Aaron D. Besterman and Coauthors

JAMA Psychiatry | Viewpoint, January 2, 2019

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

Jennifer Pugh and Coauthors

JAMA Dermatology | Original Investigation, January 2019

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

Luca A. Lotta and Coauthors

JAMA | Original Investigation, December 25, 2018

The Ethics of Heritable Genome Editing: New Considerations in a Controversial Area

Eli Y. Adashi and I. Glenn Cohen

JAMA | Viewpoint, December 25, 2018

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis

Mahdi Sarmady and Ahmad Abou Tayoun

JAMA Pediatrics | Viewpoint, December 2018

Association of Genetic Variants With Warfarin-Associated Bleeding Among Patients of African Descent

Tanima De and Coauthors

JAMA | Preliminary Communication, October 23/30, 2018

Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research

Vence L. Bonham and Coauthors

JAMA | Viewpoint, October 16, 2018

Progress and Innovations in the Management of Adult Acute Lymphoblastic Leukemia

Elias Jabbour and Coauthors

JAMA Oncology | Review, October 2018

Making Sense of the Genome Remains a Work in Progress

Wylie Burke

JAMA | Editorial, September 25, 2018

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing

Jacqueline Mersch and Coauthors

JAMA | Original Investigation, September 25, 2018

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam and Coauthors

JAMA Network Open | Original Investigation, September 21, 2018

Economic Analysis of a Noninvasive Molecular Pathologic Assay for Pigmented Skin Lesions

John Hornberger and Daniel M. Siegel

JAMA Dermatology | Original Investigation, September 2018

Comparison of 2 Treatment Models: Precision Medicine and Preventive Medicine

Bruce M. Psaty and Coauthors

JAMA | Viewpoint, August 28, 2018

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals

Valerie D. Myers and Coauthors

JAMA Cardiology | Original Investigation, August 22, 2018

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

Hsiao-Mei Lu and Coauthors

JAMA Oncology | Original Investigation, August 16, 2018

Redefining the Value Proposition of Precision Oncology: Can We Integrate Genomic Testing Without Overselling It?

Howard (Jack) West

JAMA Oncology | From The JAMA Network, August 16, 2018

Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non–Small Cell Lung Cancer in the Community Oncology Setting

Carolyn J. Presley and Coauthors

JAMA | Original Investigation, August 7, 2018

Associations of Combined Genetic and Lifestyle Risks With Incident Cardiovascular Disease and Diabetes in the UK Biobank Study

M. Abdullah Said and Coauthors

JAMA Cardiology | Original Investigation, August 2018

Association of Coffee Drinking With Mortality by Genetic Variation in Caffeine Metabolism: Findings From the UK Biobank

Erikka Loftfield and Coauthors

JAMA Internal Medicine | Original Investigation, August 2018

Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer

Allison W. Kurian and Coauthors

JAMA Oncology | Original Investigation, August 2018

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies

Christopher J. Yuskaitis and Coauthors

JAMA Pediatrics | Research Letter, August 2018

Estimation of the Percentage of US Patients With Cancer Who Benefit From Genome-Driven Oncology

John Marquart and Coauthors

JAMA Oncology | Original Investigation, August 2018

On the Marketing and Use of Pharmacogenetic Tests for Psychiatric Treatment

George S. Zubenko and Coauthors

JAMA Psychiatry | Viewpoint, August 2018

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial

Barbara B. Biesecker and Coauthors

JAMA Internal Medicine | Original Investigation, March 2018

Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing

Lisa M. Dellefave-Castillo and Coauthors

JAMA Cardiology | Editorial, February 28, 2018

Genetic Testing for Inherited Cardiac Diseases in Underserved Populations of Non-European Ancestry: Double Disparity

Glenn S. Gerhard and Coauthors

JAMA Cardiology | Viewpoint, February 28, 2018

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

Latrice G. Landry and Heidi L. Rehm

JAMA Cardiology | Brief Report, February 28, 2018

Reducing Overtreatment of Cancer With Precision Medicine: Just What the Doctor Ordered

Steven J. Katz and Coauthors

JAMA | Viewpoint, February 22, 2018

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese and Coauthors

JAMA Neurology | Original Investigation, February 12, 2018

Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge

Carsten G. Bönnemann

JAMA Neurology | Editorial, February 12, 2018

Cancer Drugs Approved Based on Biomarkers and Not Tumor Type—FDA Approval of Pembrolizumab for Mismatch Repair-Deficient Solid Cancers

Vinay Prasad and Coauthors

JAMA Oncology | Viewpoint, February 2018

Toward Precision Approaches for the Prevention and Treatment of Obesity

Susan Z. Yanovski and Jack A. Yanovski

JAMA | Viewpoint, January 16, 2018

Patient-Paired Sample Congruence Between 2 Commercial Liquid Biopsy Tests

Gonzalo Torga and Kenneth J. Pienta

JAMA Oncology | Research Letter, December 14, 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Author and Coauthors

JAMA Pediatrics | Original Investigation, December 4, 2017

Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas

Dezheng Huo and Coauthors

JAMA Oncology | Original Investigation, December 2017

The Evolution of Patient Diagnosis: From Art to Digital Data-Driven Science

Kenneth D. Mandl and Florence T. Bourgeois

JAMA | Viewpoint, November 21, 2017

Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma

Jesse L. Berry and Coauthors

JAMA Ophthalmology | Original Investigation, November 2017

Association of Mitochondrial DNA Copy Number With Cardiovascular Disease

Foram N. Ashar and Coauthors

JAMA Cardiology | Original Investigation, November 2017

Understanding the Genetic Landscape of Small Cell Carcinoma of the Urinary Bladder and Implications for Diagnosis, Prognosis, and Treatment: A Review

Erik J. Kouba and Liang Cheng

JAMA Oncology | Review, November 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Linyan Meng and Coauthors

JAMA Pediatrics | Original Investigation, October 2, 2017

A Time to Sequence

Sarah K. Baxter and Mary-Claire King

JAMA Pediatrics | Editorial, October 2, 2017

Role of Genetic Testing in Inherited Cardiovascular Disease: A Review

Allison L. Cirino and Coauthors

JAMA Cardiology | Review, October 2017

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan and Coauthors

JAMA Pediatrics | Original Investigation, September 2017

Public Response to a Proposed Field Trial of Genetically Engineered Mosquitoes in the United States

Cinnamon S. Bloss and Coauthors

JAMA | Research Letter, August 15, 2017

Pilot Programs Seek to Integrate Genomic Data Into Practice

Bridget M. Kuehn

JAMA | Medical News & Perspectives, August 1, 2017

The Hope and Hype of CRISPR-Cas9 Genome Editing: A Review

Kiran Musunuru

JAMA Cardiology | Review, August 2017

Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women

Tom Walsh and Coauthors

JAMA Oncology | Original Investigation, July 20, 2017

Pilot Programs Seek to Integrate Genomic Data Into Practice

Bridget M. Kuehn

JAMA | Medical News & Perspectives, July 12, 2017

Assessment of a Person-Level Risk Calculator to Predict New-Onset Bipolar Spectrum Disorder in Youth at Familial Risk

Danella M. Hafeman and Coauthors

JAMA Psychiatry | Original Investigation, July 5, 2017

Association of Body Mass Index With Cardiometabolic Disease in the UK Biobank: A Mendelian Randomization Study

Donald M. Lyall and Coauthors

JAMA Cardiology | Original Investigation, July 5, 2017

Association of a Family History of Atrial Fibrillation With Incidence and Outcomes of Atrial Fibrillation: A Population-Based Family Cohort Study

Shang-Hung Chang and Coauthors

JAMA Cardiology | Original Investigation, July 5, 2017

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

Muin J. Khoury

JAMA | Viewpoint, July 4, 2017

When "Actionable" Genomic Sequencing Results Cannot Be Acted Upon

Brian J. Zikmund-Fisher

JAMA Oncology | Cancer Care Chronicles, July 2017

Precision Psychiatry Meets Network Medicine: Network Psychiatry

David Silbersweig and Joseph Loscalzo

JAMA Psychiatry | Viewpoint, July 2017

Comparison of 2 Commercially Available Next-Generation Sequencing Platforms in Oncology

Nicole M. Kuderer and Coauthors

JAMA Oncology | Research Letter, July 2017

Direct-to-Consumer Medical Testing in the Era of Value-Based Care

Kimberly Lovett Rockwell

JAMA | Viewpoint, June 27, 2017

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Karoline B. Kuchenbaecker and Coauthors

JAMA | Original Investigation, June 20, 2017

The Hunt Continues for Early Ovarian Cancer Clues

Bridget M. Kuehn

JAMA | Medical News & Perspectives, June 14, 2017

The Hope and Hype of CRISPR-Cas9 Genome Editing: A Review

Kiran Musunuru

JAMA Cardoiology | Emerging Science for the Clinician, June 14, 2017

Association of Gel-Forming Mucins and Aquaporin Gene Expression With Hearing Loss, Effusion Viscosity, and Inflammation in Otitis Media With Effusion

Tina L. Samuels and Coauthors

JAMA Otolaryngology | Original Investigation, June 8, 2017

Unfolding the Clinical Potential of DNA and Protein Origami

Tracy Hampton

JAMA | Bench to Bedside, June 6, 2017

Thrombophilia Testing in Provoked Venous Thromboembolism: A Teachable Moment

Arjun Gupta and Coauthors

JAMA Internal Medicine | Less Is More, June 5, 2017

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

Muin J. Khoury

JAMA | Viewpoint, June 1, 2017

Molecular Profiling of Multiple Primary Merkel Cell Carcinoma to Distinguish Genetically Distinct Tumors From Clonally Related Metastases

Kelly L. Harms and Coauthors

JAMA Dermatology | Original Investigation, June 2017

Use of Targeted Therapy in the Treatment of Advanced Cutaneous Cancers

M. Laurin Council

JAMA Dermatology | Editorial, June 2017

Oncolytic Viruses in Cancer Treatment: A Review

Sean E. Lawler and Coauthors

JAMA Oncology | Review, June 2017

Toward Responsible Human Genome Editing

Richard O. Hynes and Coauthors

JAMA | Viewpoint, May 9, 2017

The Role of Genetic Testing in Patients With Breast Cancer: A Review

Olivia M. Valencia and Coauthors

JAMA Surgery | Review, April 19, 2017

Adding Protective Genetic Variants to Clinical Reporting of Genomic Screening Results: Restoring Balance

Marci L. B. Schwartz and Coauthors

JAMA | Viewpoint, April 18, 2017

Genetics and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: What Have We Learned?

James Dunn

JAMA Ophthalmology | Invited Commentary, April 2017

Universal Genetic Testing for Younger Patients With Colorectal Cancer

Eduardo Vilar and Elena M. Stoffel

JAMA Oncology | Editorial, April 2017

Other Resources

National Human Genome Research Institute (National Institutes of Health)

Genetics Home Reference

Human Genome Project Information

Sequence Variant Nomenclature

Gene Reviews

JAMA Insights: Genomics and Precision Health

Series Articles

Finding the Rare Pathogenic Variants in a Human Genome CME

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders CME

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing CME

Preimplantation Genetic Diagnosis for Mendelian Conditions CME

Cancer DNA in the Circulation: The Liquid Biopsy CME

Mendelian Randomization CME

Glossary of Genomics Terms

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