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

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

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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 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

Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma

Jesse L. Berry and Coauthors

JAMA Ophthalmology | Original Investigation, November 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

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

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

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

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

More Genetics and Genomics Articles From The JAMA Network

Evaluation of Evidence of Statistical Support and Corroboration of Subgroup Claims in Randomized Clinical Trials

Joshua D. Wallach and Coauthors

JAMA Internal Medicine | Original Investigation, April 2017

The Challenges of Generating Evidence to Support Precision Medicine

Mark J. Pletcher and Charles E. McCulloch

JAMA Internal Medicine | Invited Commentary, April 2017

Mobile Health Interventions for Improving Health Outcomes in Youth: A Meta-analysis

David A. Fedele and Coauthors

JAMA Pediatrics | Original Investigation, March 20, 2017

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

Marci L. B. Schwartz and Coauthors

JAMA | Viewpoint, March 13, 2017

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter and Coauthors

JAMA Psychiatry | Original Investigation, March 2017

Assessment of Overall Survival, Quality of Life, and Safety Benefits Associated With New Cancer Medicines

Sebastian Salas-Vega and Coauthors

JAMA Oncology | Original Investigation, March 2017

Novel Precision Medicine Trial Designs: Umbrellas and Baskets

Howard (Jack) West

JAMA Oncology | JAMA Oncology Patient Page, March 2017

Eradicating a Genetic Mutation

Maryl Goldberg Sackeim

JAMA | A Piece of My Mind, February 28, 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study

The Telomeres Mendelian Randomization Collaboration

JAMA Oncology | Original Investigation, February 23, 2017

Genetic Association of Waist-to-Hip Ratio With Cardiometabolic Traits, Type 2 Diabetes, and Coronary Heart Disease

Connor A. Emdin and Coauthors

JAMA | Original Investigation, February 14, 2017

When Will Mendelian Randomization Become Relevant for Clinical Practice and Public Health?

George Davey Smith and Coauthors

JAMA | Editorial, February 14, 2017

First Drug for Rare Genetic Disease

Rebecca Voelker

JAMA | News From the Food and Drug Administration, February 7, 2017

Scientists Discover Off Switch for Genome Editing Technique

Tracy Hampton

JAMA | Lab Reports, February 7, 2017

The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review

Polly Niravath and Coauthors

JAMA Oncology | Review, February 2017

The Molecular Landscape of Recurrent and Metastatic Head and Neck Cancers: Insights From a Precision Oncology Sequencing Platform

Luc G. T. Morris and Coauthors

JAMA Oncology | Original Investigation, February 2017

The Current State of Epigenetic Research in Humans: Promise and Reality

John M. Greally and Amanda J. Drake

JAMA Pediatrics | Viewpoint, February 2017

The Molecular Landscape of Recurrent and Metastatic Head and Neck Cancers: Insights From a Precision Oncology Sequencing Platform

Luc G. T. Morris and Coauthors

JAMA Oncology | Original Investigation, February 2017

Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study

Michael V. McConnell and Coauthors

JAMA Cardiology | Original Investigation, January 2017

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine

Rita Horvath, and Patrick F. Chinnery

JAMA Neurology | Editorial, January 2017

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

Nicole M. Kuderer and Coauthors

JAMA Oncology | Research Letter, December 15, 2016

Universal Genetic Testing for Younger Patients With Colorectal Cancer

Eduardo Vilar and Elena M. Stoffel

JAMA Oncology | Editorial, December 15, 2016

Approving a Problematic Muscular Dystrophy Drug: Implications for FDA Policy

Aaron S. Kesselheim and Jerry Avorn

JAMA | Viewpoint, December 13, 2016

Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review

Alessandro Didonna and Puneet Opal

JAMA Neurology | Review, December 2016

A Precision Medicine Approach to Clinical Trials

Rita Rubin

JAMA | Medical News & Perspectives, November 15, 2016

Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review

Chengzu Long and Coauthors

JAMA Neurology | Review, November 2016

Getting Pharmacogenomics Into the Clinic

Jennifer Abbasi

JAMA | Medical News & Perspectives, October 18, 2016

What Happens When Underperforming Big Ideas in Research Become Entrenched?

Michael J. Joyner and Coauthors

JAMA | Viewpoint, October 4, 2016

Will Precision Medicine Improve Population Health?

Muin J. Khoury and Sandro Galea

JAMA | Viewpoint, October 4, 2016

ESR1 Mutations in Cell-Free DNA of Breast Cancer: Predictive “Tip of the Iceberg”

Suzanne A. W. Fuqua and Coauthors

JAMA | Invited Commentary, October 2016

Synthetic Nucleic Acids and Treatment of Neurological Diseases

David R. Corey

JAMA Neurology | Clinical Implications of Basic Neuroscience Research, October 2016

Synthetic Nucleic Acids and Treatment of Neurological Diseases

David R. Corey

JAMA Neurology | Clinical Implications of Basic Neuroscience Research, October 2016

New Reasons to Pursue the Therapeutic Potential of Synthetic Nucleic Acids for Neurological Diseases

Jill Sergesketter Butler and Marek Napierala

JAMA Neurology | Editorial, October 2016

Therapeutic and Preventive Implications of Moonshot in Hereditary Cancer Syndromes

Osama Diab and Coauthors

JAMA Oncology | Viewpoint, September 8, 2016

Researchers Develop Tissue-Engineered Cartilage

Tracy Hampton

JAMA | Lab Reports, September 6, 2016

Genetics and the Evaluation of the Febrile Child

Howard Bauchner

JAMA | Editorial, August 23, 2016

Association of RNA Biosignatures With Bacterial Infections in Febrile Infants Aged 60 Days or Younger

Prashant Mahajan and Coauthors

JAMA | Preliminary Communication, August 23, 2016

Genomic Analysis of Plasma Cell-Free DNA in Patients With Cancer

Geoffrey R. Oxnard and Coauthors

JAMA Oncology | Viewpoint, August 18, 2016

Where to Draw the Boundaries for Prenatal Carrier Screening

Wayne W. Grody

JAMA | Editorial, August 16, 2016

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

Imran S. Haque and Coauthors

JAMA | Original Investigation, August 16, 2016

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

Imran S. Haque and Coauthors

JAMA | Original Investigation, August 16, 2016

Assay Detects Drug-Resistance Genes

Rebecca Voelker

JAMA | News From the Food and Drug Administration, August 16, 2016

National Academies Hit the Brakes on Gene Drive–Modified Organisms

Jennifer Abbasi

JAMA | Medical News & Perspectives, August 2, 2016

Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and RAS Mutations in Advanced Lung Cancer

Adrian G. Sacher and Coauthors

JAMA Oncology | Original Investigation, August 2016

Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and KRAS Mutations in Advanced Lung Cancer

Adrian G. Sacher and Coauthors

JAMA Oncology | Original Investigation, August 2016

Clinical Application of Liquid Biopsies

P. Mickey Williams and Barbara A. Conley

JAMA Oncology | Editorial, August 2016

A Digital Health Intervention to Lower Cardiovascular Risk: A Randomized Clinical Trial

Sonia S. Anand and Coauthors

JAMA Cardiology | Brief Report, August 2016

Preventing Mitochondrial DNA Diseases: One Step Forward, Two Steps Back

I. Glenn Cohen and Eli Y. Adashi

JAMA | Viewpoint, July 19, 2016

Wearable Biosensors Studied for Clinical Monitoring and Treatment

Bridget M. Kuehn

JAMA | Medical News & Perspectives, July 19, 2016

Liquid Biopsy Receives Approval

Rebecca Voelker

JAMA | News From the Food and Drug Administration, July 19, 2016

Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome

Lydia Usha and Coauthors

JAMA | JAMA Diagnostic Test Interpretation, July 5, 2016

Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis

Noriko Isobe and Coauthors

JAMA Neurology | Original Investigation, July 2016

Linking Genotype to Clinical Phenotype in Multiple Sclerosis: In Search of the Holy Grail

Erin E. Longbrake and David A. Hafler

JAMA Neurology | Editorial, July 2016

Blood-Based Screening for Colon Cancer: A Disruptive Innovation or Simply a Disruption?

Ravi B. Parikh and Vinay Prasad

JAMA | Viewpoint, June 21, 2016

Exome Sequencing of Familial Bipolar Disorder

Fernando S. Goes and Coauthors

JAMA Psychiatry | Original Investigation, June 2016

Universal Genomic Testing Needed to Win the War Against Cancer: Genomics IS the Diagnosis

Vivek Subbiah and Razelle Kurzrock

JAMA Oncology | Viewpoint, June 2016

The Prospects for Cardiovascular Proteomics: A Glass Approaching Half Full

Mark D. Benson and Coauthors

JAMA Cardiology | Viewpoint, June 2016

Do It Yourself Newborn Screening

Pascal Borry and Coauthors

JAMA Pediatrics | Viewpoint, June 2016

Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study

Carolina Montano and Coauthors

JAMA Psychiatry | Original Investigation, May 2016

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

D. Williams Parsons and Coauthors

JAMA Oncology | Original Investigation, May 2016

Precision Therapy for Pediatric Cancers

Javed Khan and Lee J. Helman

JAMA Oncology | Editorial, May 2016

Intracoronary Gene Transfer of Adenylyl Cyclase 6 in Patients With Heart Failure: A Randomized Clinical Trial

H. Kirk Hammond and Coauthors

JAMA Cardiology | Original Investigation, May 2016

Moving From Clinical Trials to Precision Medicine: The Role for Predictive Modeling

Michael J. Pencina and Eric D. Peterson

JAMA | Editorial, April 26, 2016

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Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates

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JAMA Neurology | Viewpoint, March 2016

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Andrea J. Gonzalez-Mantilla and Coauthors

JAMA Psychiatry | Original Investigation, March 2016

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Abdul Rehman and Coauthors

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JAMA | Viewpoint, February 9, 2016

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Priscilla Q. Vu and Coauthors

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Circulating Tumor DNA Helps Track Cancer

Tracy Hampton

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Next-Generation Sequencing in Oncology in the Era of Precision Medicine

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Next-Generation Sequencing for the Identification of Targetable Molecular Alterations in Cancer

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