Toward clinical genomics in everyday medicine: perspectives and recommendations

ABSTRACT Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask how clinical genome and exome sequencing can be constructively integrated more broadly into the routine practice of medicine for the betterment of public health. In November 2014, 46 experts from academia, industry, policy and patient advocacy gathered in a conference sponsored by Illumina, Inc. to discuss this question, share viewpoints and propose recommendations. This perspective summarizes that work and identifies some of the obstacles and opportunities that must be considered in translating advances in genomics more widely into the practice of medicine.

• Publication year

  2016

• Venue

  Expert Review of Molecular Diagnostics

• Publication date

  2016-02-24

• Fields of study

  Medicine

• Identifiers
  DOI 10.1586/14737159.2016.1146593PMID 26810587PMCID 4841021
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The Digital Doctor: Hope, Hype, and Harm at the Dawn of Medicine's Computer Age, 1st ed., R. Watcher. McGraw-Hill Education (April 1, 2015)

  2016cited by this paper
• Next-generation sequencing to guide cancer therapy

  2015cited by this paper
• Common Genetic Risk for Melanoma Encourages Preventive Behavior Change

  2015cited by this paper
• Core Concept: Homomorphic encryption

  2015cited by this paper
• [The digital doctor].

  2015cited by this paper
• The FDA and genomic tests--getting regulation right.

  2015cited by this paper
• Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine.

  2015cited by this paper
• College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

  2015cited by this paper
• The Digital Doctor: Hope, Hype, and Harm at the Dawn of Medicine's Computer Age

  2015cited by this paper
• GINA, genetic discrimination, and genomic medicine.

  2015cited by this paper
• Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

  2015cited by this paper
• How to know when physicians are ready for genomic medicine

  2015cited by this paper
• BioMiner: Paving the Way for Personalized Medicine

  2015cited by this paper
• ClinGen--the Clinical Genome Resource.

  2015cited by this paper
• “Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families

  2015cited by this paper
• GLOBAL ALLIANCE FOR GENOMICS AND HEALTH

  2015cited by this paper
• A new initiative on precision medicine.

  2015cited by this paper
• Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

  2015cited by this paper
• Enabling a genetically informed approach to cancer medicine: a retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel.

  2014cited by this paper
• An approach to pediatric exome and genome sequencing

  2014cited by this paper
• American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

  2014cited by this paper
• Exome sequencing in undiagnosed inherited and sporadic ataxias

  2014cited by this paper
• Diagnostic clinical genome and exome sequencing.

  2014cited by this paper
• Diagnostic clinical genome and exome sequencing.

  2014cited by this paper
• Resistance to therapy in acute promyelocytic leukemia.

  2014cited by this paper
• Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

  2014cited by this paper
• Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?

  2014cited by this paper
• Coverage With Evidence Development Activities Around The World: An Environment Scan.

  2014cited by this paper
• Redefining Genomic Privacy: Trust and Empowerment

  2014cited by this paper
• Regulation of Next Generation Sequencing

  2014cited by this paper
• Professional medical education and genomics.

  2014cited by this paper
• Routes for breaching and protecting genetic privacy

  2013cited by this paper
• Identifying Personal Genomes by Surname Inference

  2013cited by this paper
• Clinical Genome Sequencing

  2013cited by this paper
• Implementing genomic medicine in the clinic: the future is here

  2013cited by this paper
• Evidence That Personal Genome Testing Enhances Student Learning in a Course on Genomics and Personalized Medicine

  2013cited by this paper
• Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study

  2013cited by this paper
• Motivation in the age of genomics: why genetic findings of disease susceptibility might not motivate behavior change

  2013cited by this paper
• Pharmacogenetics and pharmacogenomics: a bridge to individualized cancer therapy.

  2013cited by this paper
• First FDA authorization for next-generation sequencer.

  2013cited by this paper
• Exome Sequencing Can Improve Diagnosis and Alter Patient Management

  2012cited by this paper
• Use of CYP2D6 genotyping in practice: tamoxifen dose adjustment.

  2012cited by this paper
• Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

  2012cited by this paper
• Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

  2012cited by this paper
• The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care

  2012cited by this paper
• Personalized Medicine and Cancer

  2012cited by this paper
• Insurance Coverage Policies for Personalized Medicine

  2012cited by this paper
• Cost‐effectiveness of KRAS testing in metastatic colorectal cancer patients in the United States and Germany

  2012cited by this paper
• The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

  2012cited by this paper
• Genomic information as a behavioral health intervention: can it work?

  2011cited by this paper
• Addressing gaps in physician education using personal genomic testing

  2011cited by this paper
• Genomic Risk Profiling: Attitudes and Use in Personal and Clinical Care of Primary Care Physicians Who Offer Risk Profiling

  2011cited by this paper
• When Public Health and Genetic Privacy Collide: Positive and Normative Theories Explaining How ACA's Expansion of Corporate Wellness Programs Conflicts with GINA's Privacy Rules

  2011cited by this paper
• The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health Care

  2011cited by this paper
• Lessons learned from the introduction of personalized genotyping into a medical school curriculum

  2011cited by this paper
• Medical and graduate students' attitudes toward personal genomics

  2011cited by this paper
• Personalized medicine in oncology: tailoring the right drug to the right patient.

  2010cited by this paper
• Does genomic risk information motivate people to change their behavior?

  2009cited by this paper
• Genomic and personalized medicine

  2009cited by this paper
• The evidence dilemma in genomic medicine.

  2008cited by this paper
• Coverage options for promising technologies: Medicare's 'coverage with evidence development'.

  2006cited by this paper
• BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes.

  1996cited by this paper
• The Henry J. Kaiser Family Foundation.

  1990cited by this paper
• Key Issues

  1981cited by this paper
• Current Research Programs

  1963cited by this paper

• Direct-to-Consumer Testing: Benefits and Concerns of Commercially Accessed Laboratory Tests.

  2025cites this paper
• Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

  2025cites this paper
• MetaTrinity: Enabling Fast Metagenomic Classification via Seed Counting and Edit Distance Approximation

  2023cites this paper
• Physician weight influences responses to a public health message about the genetics of obesity.

  2023cites this paper
• Prospective on Imaging Mass Spectrometry in Clinical Diagnostics

  2023cites this paper
• Applying a risk governance approach to examine how professionals perceive the benefits and risks of clinical genomics in Australian healthcare

  2023cites this paper
• Accelerating Food Allergy Research: Need for a Data Commons.

  2023cites this paper
• Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

  2022cites this paper
• Landscape of genetic variants in sporadic meningiomas captured with clinical genomics

  2022cites this paper
• Development of Food Allergy data dictionary: towards a Food Allergy Data Commons.

  2022cites this paper
• Rapid Tissue Donation (RTD) for Oncology Research

  2021cites this paper
• Engaging community stakeholders in research on best practices for clinical genomic sequencing

  2020cites this paper
• Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

  2020cites this paper
• “Genethics” and Public Health Genomics

  2020cites this paper
• Cancer Genetics.

  2020cites this paper
• Estimating the costs of genomic sequencing in cancer control

  2020cites this paper
• Coverage of pharmacogenetic tests by private health insurance companies.

  2019cites this paper
• Applying mental model methods to characterize understanding of gene-environment influences: the case of podoconiosis in Ethiopia

  2019cites this paper
• Personal genomic screening: How best to facilitate preparedness of future clients.

  2019cites this paper
• Clinical Stewardship of Genomic Information in Pediatric Critical Care: A Qualitative Interview Study

  2019cites this paper
• Muscle Injuries and Genetic Research: Will This Be the Future?

  2019cites this paper
• Rethinking the ethical principles of genomic medicine services

  2019cites this paper
• Genomic Health Care Today and Tomorrow: Expert Perspectives.

  2019cites this paper
• Misc. medical devices and technologies

  2019cites this paper
• Large-Scale Data Sharing Initiatives in Genomic Oncology

  2018cites this paper
• ERASMUS+ PROGRAMME KEY ACTION 2: COOPERATION FOR INNOVATION AND THE EXCHANGE OF GOOD PRACTICES STRATEGIC PARTNERSHIPS IN THE FIELD OF EDUCATION, TRAINING AND YOUTH

  2018cites this paper
• [Big data, generalities and integration in radiotherapy].

  2018cites this paper
• DNA.Land is a framework to collect genomes and phenomes in the era of abundant genetic information

  2018cites this paper
• Patterns of gene mutations in bile duct cancers: is it time to overcome the anatomical classification?

  2018cites this paper
• Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.

  2018cites this paper
• Seave: a comprehensive web platform for storing and interrogating human genomic variation

  2018cites this paper
• Accelerating the Understanding of Life's Code Through Better Algorithms and Hardware Design

  2018cites this paper
• Recent updates and challenges on the regulation of precision medicine: The United States in perspective

  2018cites this paper
• The Certainty of Uncertainty in Genomic Medicine: Managing the Challenge

  2018cites this paper
• Data Commons to Support Pediatric Cancer Research.

  2017cites this paper
• Clinical Applications of Personalized Medicine: A New Paradigm and Challenge.

  2017cites this paper
• Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery

  2017cites this paper
• Genetics and Genomics in Clinical Practice: The Views of Wisconsin Physicians.

  2017cites this paper
• DNA.Land: A digital biobank using a massive crowdsourcing approach

  2017cites this paper
• Versatile ion S5XL sequencer for targeted next generation sequencing of solid tumors in a clinical laboratory

  2017cites this paper
• Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement

  2017cites this paper
• Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.

  2017cites this paper
• Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results

  2017cites this paper
• Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.

  2017cites this paper
• Examining for an association between candidate gene polymorphisms in the metabolic syndrome components on excess weight and adiposity measures in youth: a cross-sectional study

  2017cites this paper
• Cardiac development: from current understanding to new regenerative concepts.

  2017cites this paper
• High-Definition Medicine.

  2017cites this paper
• Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes

  2017cites this paper
• 2017 Roadmap for Innovation-ACC Health Policy Statement on Healthcare Transformation in the Era of Digital Health, Big Data, and Precision Health: A Report of the American College of Cardiology Task Force on Health Policy Statements and Systems of Care.

  2017cites this paper
• From clinical uncertainties to precision medicine: the emerging role of the gut barrier and microbiome in small bowel functional diseases

  2017cites this paper
• Communication challenges for nongeneticist physicians relaying clinical genomic results.

  2017cites this paper
• Opportunities and challenges in NGS for diagnosis of rare paediatric diseases

  2017cites this paper
• Data Commons to Support Pediatric Cancer Research.

  2017cites this paper
• Chancen und Risiken von e-Health in der Labormedizin

  2016cites this paper
• Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

  2016cites this paper
• Community Health Workers: An Untapped Resource to Promote Genomic Literacy

  2016cites this paper
• Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

  2016cites this paper
• Genomic sequencing in clinical practice: applications, challenges, and opportunities

  2016cites this paper
• Environmental and Genetic Influences in Attention Deficit Hyperactivity Disorder (ADHD) and its Comorbidities

  2016cites this paper
• Environmental and Genetic Influences in Attention Deficit Hyperactivity Disorder ( ADHD ) and its comorbidities Thesis for doctoral degree By

  2016cites this paper
• Findings made in gene panel to whole genome sequencing: data, knowledge, ethics – and consequences?

  2016cites this paper
• Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases

  2016cites this paper
• Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

  2016cites this paper
• The Human Genome and the Clinic: Impact of Clinical Genomics to Patient’s Bedside

  2016cites this paper
• The cost-effectiveness and value of gynecological cancer biomarker screening in financially vulnerable female populations

  2016cites this paper