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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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87 hot topic(s) found with the query "Incidental findings"

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
(Posted: Jul 31, 2024 6PM)

From the abstract: " We systematically identified pathogenic (P) and likely pathogenic (LP) variants in established disease-causing genes, adhering to ACMG v3.2 secondary finding guidelines and beyond. For non-ACMG secondary findings, akin to incidental findings in clinical settings, we utilized a set of criteria focusing on pediatric onset, high penetrance, moderate to severe phenotypes, and the clinical actionability of the variants...Overall, variants of possible medical importance were found in 8.76% of participants in both ACMG (5.81%) and non-ACMG (2.95%) genes. "

A framework for the evaluation and reporting of incidental findings in clinical genomic testing
CM Brown et al, EJHG, April 2, 2024 (Posted: Apr 02, 2024 9AM)

From the abstract: "Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS). The framework prioritizes clinical significance and actionability of IFs and follows a stepwise approach with stopping points at which IFs may be recommended for return or not. Over 18 months, implementation of the framework in a clinical laboratory facilitated the return of actionable IFs in 37 of 720 (5.1%) individuals referred for cGS. "

Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
LW ush et al, IJNS, February 2024 (Posted: Feb 06, 2024 1PM)

From the abstract: "We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum. "

Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
A Chaouch et al, EJHG, January 4, 2024 (Posted: Jan 05, 2024 8AM)

From the article: "The complexity of WGS, the range of possible incidental findings, the inevitable uncertainties, and the often limited understanding about genomics by patients, their family, and sometimes by mainstream clinicians can make informed consent difficult to achieve. Some have argued that an excess of information can be a deterrent for patients, as it may lead to difficulties in ensuring valid consent and hinder access to potentially valuable investigations and treatments. However, it is important that enough information is provided to bring patients’ and families’ hopes and expectations into a realistic alignment with the likely results of WGS. "

Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure
J Nolan et al, Genetics in Medicine, December 19, 2023 (Posted: Dec 20, 2023 9AM)

From the abstract: "The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia, von Hippel-Lindau. Here we report disclosure processes, manifestation of AF-related disease, outcomes and costs. "

Ten Years of Incidental, Secondary, and Actionable Findings.
Sharon Plon et al. N Engl J Med 2023 11 (19) 1813-1814 (Posted: Nov 10, 2023 7AM)

From the paper: "The ACMG has highlighted the fact that the ACMG SF gene lists were not designed to be implemented for population screening outside of research. However, many of the genes that have an effect on life span are also considered to be “tier 1” by the Centers for Disease Control and Prevention; knowledge of their status could have a positive effect on population health. "

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
DT Miller et al, Genetics in Medicine, June 22, 2023 (Posted: Jun 22, 2023 7AM)

The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SFs) in the context of clinical exome and genome sequencing. The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BODs) have agreed that the list of recommended genes should now be updated annually, but with an ongoing goal of maintaining this as a minimum list. Reporting of SFs should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: yield and dilemmas
LB Salmon et al, Genet Med Open, May 2023 (Posted: May 25, 2023 8AM)

Active search for RRFs, IFs and SFs yields a high rate of findings that may contribute to individual medical care in parents of probands undergoing ES. A structured approach to overcome the challenges associated with reporting these findings should be considered before such active search can be broadly adopted in clinical genomic data analysis.

Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association
AP Landsrtom et al, Circ Genomics & Prec Med, March 27, 2023 (Posted: Mar 27, 2023 7AM)

The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. This scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient’s family and re-evaluation of the genetic variant in question.

Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen Edwin et al. JCO precision oncology 2022 12 e2200245 (Posted: Jan 04, 2023 6AM)

We review the current studies implementing WGTS in health care systems and provide a synopsis of the clinical evidence and insights into practical considerations for WGTS implementation. We reflect on regulatory, costs, reimbursement, and incidental findings aspects of this test. WGTS is an appropriate comprehensive clinical test for many tumor types and can replace multiple, cascade testing approaches currently performed.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research
AR Blumling et al, J Per Med, November 16, 2022 (Posted: Nov 16, 2022 11AM)

We returned P/LP results to 29 participants with outcome data. For 23 of the 29 participants, the P/LP results were previously unknown. Five of the 23 participants were already followed for conditions related to the P/LP variant. Of those receiving novel results and not being followed for the condition related to the P/LP result (n = 18), 14 (77.8%) had a change in healthcare after return of results (RoR). Following RoR, cascade testing of family members occurred for 10 of 23 (43.5%). Our findings demonstrate how return of genomic screening results impacts healthcare in pediatric populations

When Silence Disrupts
RC Hunt et al, NEJM, August 24, 2022 (Posted: Aug 24, 2022 6PM)

A common assumption is that synonymous codon changes, so called because they do not alter the encoded amino acid sequence, are neutral genetic variants that have no effect on phenotype or genetic fitness. However, there is a mounting body of literature showing that synonymous variants influence protein biosynthesis and the biologic behavior of cells and underlie human disease.

Genomic tools for health: Secondary findings as findings to be shared
SA Miner et al, Genetics in Medicine, August 18, 2022 (Posted: Aug 19, 2022 11AM)

To explore how parents understand SF disclosure in the context of their child and other family members’ lives, we conducted semistructured interviews with 30 families (40 parents in total). All parents had children who were enrolled in a genetic sequencing protocol that returned results by default. We found that parents did not routinely conceptualize SFs as distinctive health information. Rather parents saw this information as part of their child’s overall health. To make decisions about disclosure, parents weighed their child’s ability to understand the SF information and their other family member’s need to know.

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
DT Miller et al, Genetics in Medicine, June 17, 2022 (Posted: Jun 17, 2022 8AM)

In total, 5 new genes were added to the v3.1 list, with a brief description of the factors considered in adding these genes. A list of 3 genes considered for inclusion, but ultimately excluded from the v3.1 list; these genes could be reviewed again in the future if new data emerge. TTR (transthyretin) was previously reviewed by the SFWG for TTR-associated amyloidosis and not included on the SF v3.0 list. However, this gene–phenotype pair was reconsidered and included in SF v3.1 because of the availability of new data on population prevalence and US Food and Drug Administration–approved treatments, demonstrating the fluidity of the SF list over time as new information emerges.

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.
Liles Elizabeth G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 5 (Posted: May 08, 2022 1PM)

Individuals having genomic sequencing can choose to be notified about pathogenic variants in genes unrelated to the testing indication. A decision aid can facilitate weighing one's values before making a choice about these additional results. We conducted a randomized trial (N = 231) comparing informed values-choice congruence among adults at risk for a hereditary cancer syndrome who viewed either the Optional Results Choice Aid (ORCA) or web-based additional findings information alone. ORCA is values-focused with a low-literacy design. The ORCA decision aid did not significantly improve informed values-choice congruence over web-based information in this cohort of adults deciding about genomic results. Both web-based approaches may be effective for adults to decide about receiving medically actionable additional results.

Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research
F Johnson et al, EJHG, March 8, 2022 (Posted: Mar 08, 2022 8AM)

Our findings suggest that results of uncertain clinical relevance are often experienced in the same way as a ‘full-blown’ diagnosis. This has significant emotional and behavioral impact, for example adoption of lifestyle-altering disease-focused behaviors. Analysis suggests this may be due to the results not fitting a common medical model, leading recipients to interpret the significance of the result maladaptively. Findings suggest scope for professionals to negotiate and reframe uncertain screening results. Clearer initial communication is needed to reassure recipients there is no immediate severe health risk from these types of results.

Reevaluating the "right not to know" in genomics research.
Gold Nina B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12 (2) 289-292 (Posted: Feb 19, 2022 0PM)

Participants in genomic research who decline the return of genomic information about themselves in research are said to be asserting their autonomy around the “right not to know.” A recent report challenges this paradigm by showing that participants’ decisions about receiving unanticipated genomic information in research may change when they are given more information and an opportunity to reconsider. These findings prompt us to ask if we can expand autonomy by offering participants opportunities to change their choices, given new experiences in their lives or advances in medical science.

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
V van der Shoot et al, EJHG, October 25, 2021 (Posted: Oct 25, 2021 10AM)

We here evaluated UFs identified during a 5-year period in which 16,482 index patients received clinical whole-exome sequencing (WES). UFs were identified in 0.58% (95/16,482) of index patients, indicating that the overall frequency of UFs in clinical WES is low. Fewer UFs were identified using restricted disease-gene panels (0.03%) than when using whole-exome/Mendeliome analysis (1.03%). The UF was disclosed to 86 of 95 individuals, for reasons of medical actionability. Only 61% of these UFs reside in a gene that is listed on the “ACMG59”-list.

My Research Results: a program to facilitate return of clinically actionable genomic research findings
AM WIllis et al, EJHG, October 4, 2021 (Posted: Oct 04, 2021 6AM)

MyRR is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings, support for researchers with developing an ethical strategy for managing research findings and an online information platform. The results notification strategy is an evidence-based two-step model.

A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.
Sapp Julie C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 8 (Posted: Aug 27, 2021 7AM)

Secondary findings (SFs) are present in 1–4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely.Variation in how SF disclosure and outcomes were described limited our ability to compare findings. We conclude the literature provided limited insight into how the American College of Medical Genetics and Genomics (ACMG) guidelines have been translated into precision health outcomes for SF recipients. Robust studies of SF recipients are needed and should be prioritized for future research.

Incidental findings from cancer next generation sequencing panels
N Maani et al NPJ Genomic Medicine, July 18, 2021 (Posted: Jul 20, 2021 7AM)

A retrospective chart review was conducted to identify cases of incidental findings from NGS-MGP testing. Inclusion criteria included: 1) multiple pathogenic variants in the same patient; 2) pathogenic variants at a low allele fraction; and/or 3) the presence of pathogenic variants not consistent with family history. Of 6060 NGS-MGP tests, 24 cases fulfilling our inclusion criteria were identified. 18/24 (75.0%) patients were classified as CH, 3/24 (12.5%) as mosaic, 2/24 (8.3%) related to a hematologic malignancy, and 1/24 (4.2%) as true germline.

Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings
JE Cleophat et al, Genome Medicine, June 26, 2021 (Posted: Jun 27, 2021 7AM)

Cancer patients and members of the public were open to receive genomic SFs, considering their potential clinical and personal utility. They believed that the right to know or not and share or not such findings should remain the patient’s decision. They thought that the disclosure of SFs should be made mainly in person by the prescribing clinician. Maintaining confidentiality when so requested and preventing genetic discrimination were considered essential.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
DT MIller et al, Genetics in Medicine, May 20, 2021 (Posted: May 20, 2021 8AM)

Since the publication of the original ACMG Policy Statement on seoondary findings, several studies across a variety of research and clinical cohorts have sought to measure the frequency at which SFs are likely to be identified. Although these studies can differ considerably in their ascertainment strategies, variant interpretation methods, and underlying gene lists, reported SF frequencies are consistently in the range of 1–6%

From one genomic diagnosis, researchers discover other treatable health conditions
P Ganguly, NHGRI, May 13, 2021 Brand (Posted: May 14, 2021 8AM)

When a person comes into the clinic to be tested for a specific condition, any positive result related to that condition is called a primary finding. But when testing reveals information separate from the original condition, it is called a secondary finding. An estimated 1-4% of people receive unexpected health results from genomic tests each year.

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
EC Chao et al, Genetics in Medicine, April 16, 2021 (Posted: Apr 18, 2021 8AM)

Professional recommendations are needed to help standardize laboratory practices for identifying and interpreting variants that are at an increased risk for being of true hematopoietic origin. These points to consider will provide guidance for laboratories, focused on NGS testing for constitutional (Mendelian) disorders, to identify and investigate potential somatic or acquired variants as well as recommendations for ancillary testing and options for clinical diagnosis.

Analysis of laboratory reporting practices using a quality assessment of a virtual patient.
Vears Danya F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct (Posted: Oct 31, 2020 10AM)

To investigate laboratory reporting differences, we created virtual patient–parent trio data by merging variants from patients into “normal” exomes. We invited laboratories worldwide to analyze the data along with patient phenotype information. We found a high degree of variability has significant impact on whether causative variants are identified, with important implications for patient care.

Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment
S Jiang et al, Genetics in Medicine, AUgust 21, 2020 (Posted: Aug 21, 2020 9AM)

Health-care practitioners’ (HCPs) preferences for returning secondary findings (SFs) will influence guideline compliance, shared decision-making, and patient health outcomes. This study aimed to estimate HCPs’ preferences and willingness to support the return (WTSR) of SFs in Canada.

Participant choices for return of genomic results in the eMERGE Network
C Howell et al, Genetics in Medicine, July 16 2020 (Posted: Jul 17, 2020 10AM)

Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results.

Frequency of genomic secondary findings among 21,915 eMERGE network participants
Emerge Working Group, Genetics in Medicine, June 17, 2020 (Posted: Jun 17, 2020 11AM)

The study found 2.54% have variants from 59 genes the American College of Medical Genetics and Genomics recommends for return. Variants associated with cancer susceptibility were most frequent (1.38%), followed by cardiovascular diseases (0.87%), and lipid disorders (0.50%).

Quality of life drives patients’ preferences for secondary findings from genomic sequencing
C Mighton et al, Eur J Hum Genet May 18, 2020 (Posted: May 19, 2020 7AM)

This study aimed to explore what drives patients’ preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF.

Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
Amor David J et al. Prenatal diagnosis 2020 Feb (Posted: Feb 26, 2020 8AM)

Genome sequencing is increasingly being used to aid genetic diagnosis in fetuses with structural abnormalities detected on ultrasound examination. However, with clinical exome and genome sequencing, there is potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing.

Disclosure of Genetic Risk Revealed in a Research Study.
Castellanos Angela et al. The New England journal of medicine 2020 Feb (8) 763-765 (Posted: Feb 20, 2020 9AM)

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec (Posted: Dec 12, 2019 9AM)

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438 (Posted: Dec 04, 2019 10AM)

Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice
LM Ballard et al, Eur J Humn Genetics, September 16, 2019 (Posted: Sep 17, 2019 7AM)

The study garnered public views regarding genome sequencing, incidental findings (IFs), and sharing genetic information with relatives. Participants (n?=?1954) from the British general public completed a survey, distributed via email. Overall, the public had a positive view of genomic sequencing, choosing ‘informative’ as the most popular word.

How to Address Material Incidental Findings
Panel on Research Ethics, Canada, August 2019 (Posted: Aug 20, 2019 8AM)

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.
Houdayer F et al. European journal of medical genetics 2019 Jun 103711 (Posted: Jul 10, 2019 8AM)

Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this study, the authors analyzed the preferences of patients and their families regarding SF and identified the reporting procedures necessary for informed consent

Finding Out You Have a Genetic Mutation May Not Be as Bad as You Think- Scientists are learning they greatly overestimated chances of developing deadly cancers in patients with no family history of disease
M Cortez, Bloomberg News, May 9, 2019 (Posted: May 09, 2019 9AM)

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG Board of Directors, Genetics in Medicine, April 25, 2019 (Posted: Apr 25, 2019 9AM)

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
CT Robinet et al, EJHG, April 24, 2019 (Posted: Apr 24, 2019 0PM)

Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.
Mighton Chloe et al. European journal of human genetics : EJHG 2019 Mar (Posted: Mar 13, 2019 8AM)

Secondary findings: How did we get here, and where are we going?
Ormond Kelly E et al. Journal of genetic counseling 2019 Mar (Posted: Mar 06, 2019 9AM)

Return of individual genomic research results: are laws and policies keeping step?
A Thorogood et al, EJHG, January 8, 2019 (Posted: Jan 09, 2019 1PM)

Reconciling Opportunistic and Population Screening in Clinical Genomics.
Brothers Kyle B et al. Mayo Clinic proceedings 2019 Jan 94(1) 103-109 (Posted: Jan 09, 2019 10AM)

Experiences and perspectives on the return of secondary findings among genetic epidemiologists
CM Stein et al, Genetics in Medicine, November 23, 2018 (Posted: Nov 23, 2018 0PM)

Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
Slavin Thomas P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Oct JCO1800328 (Posted: Oct 24, 2018 9AM)

1 in 38 individuals at risk of a dominant medically actionable disease.
Haer-Wigman Lonneke et al. European journal of human genetics : EJHG 2018 Oct (Posted: Oct 10, 2018 7AM)

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Hart M Ragan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct (Posted: Oct 06, 2018 8AM)

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.
Delanne J et al. European journal of medical genetics 2018 Aug (Posted: Sep 05, 2018 9AM)

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.
Saelaert Marlies et al. European journal of human genetics : EJHG 2018 Jul (Posted: Jul 11, 2018 9AM)

Genomic sequencing identifies secondary findings in a cohort of parent study participants
ML Thompson et al, Genetics in Medicine, Apr 11, 2018 (Posted: Apr 13, 2018 5AM)

Responses to receipt of incidental findings for familial hypercholesterolemia in adult biobank participants
L Jones et al, JACC, Mar 2018 (Posted: Mar 13, 2018 7PM)

Patients' Attitudes Towards the Return of Incidental Findings After Research with Residual Tissue: A Mixed Methods Study.
Vermeulen Eric et al. Genetic testing and molecular biomarkers 2018 Feb (Posted: Feb 21, 2018 10AM)

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Rini Christine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct (Posted: Jan 03, 2018 10AM)

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
Ormondroyd Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct (Posted: Jan 03, 2018 10AM)

"Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project
E Onrmondroyd et al, genetics in Medicine, Oct 26, 2017 (Posted: Oct 30, 2017 2PM)

The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study
C Rini et al, Genetics in Medicine, Oct 26, 2017 (Posted: Oct 26, 2017 3PM)

Genomic sequencing identifies secondary findings in a cohort of parent study participants
ML Thompson et al, BioRxIV, September 1, 2017 (Posted: Sep 04, 2017 7PM)

Reporting practices for unsolicited and secondary findings from next generation sequencing technologies: Perspectives of laboratory personnel.
Vears Danya F et al. Human mutation 2017 May (Posted: May 24, 2017 9AM)

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Mackley Michael P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Mar 19(3) 283-293 (Posted: Apr 26, 2017 9AM)

Defining categories of actionability for secondary findings in next-generation sequencing.
Moret Celine et al. Journal of medical ethics 2016 Dec (Posted: Apr 19, 2017 8AM)

Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
Fiallos Katie et al. European journal of human genetics : EJHG 2017 Mar (Posted: Apr 12, 2017 8AM)

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar Saumya Shekhar et al. EBioMedicine 2016 Mar 5211-6 (Posted: Jan 04, 2017 11AM)

The fiduciary relationship model for managing clinical genomic "incidental" findings.
Lázaro-Muñoz Gabriel et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(4) 576-89 (Posted: Nov 16, 2016 11AM)

Will Unanticipated Genetic Mutations Lead to Subsequent Disease?
Brigham and Women's Hospital press release, November 9, 2016 (Posted: Nov 12, 2016 0PM)

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.
Grandval P et al. Clinical genetics 2016 Feb 89(2) 267-8 (Posted: Oct 26, 2016 10AM)

PIGSR: A Preference Instrument for Genomics Secondary Results
CSER Consortium Online Tool (Posted: Oct 14, 2016 11AM)

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
Darnell Andrew J et al. American journal of human genetics 2016 Mar 98(3) 435-41 (Posted: Aug 03, 2016 9AM)

Choices of Incidental Findings of Individuals Undergoing Genome Wide Sequencing, a Single Center's Experience.
Bishop Callie L et al. Clinical genetics 2016 Jul (Posted: Jul 13, 2016 9AM)

Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers.
Kleiderman E et al. Clinical genetics 2015 Oct 88(4) 320-6 (Posted: Jun 29, 2016 1PM)

Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings.
Sabatello Maya et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 292-308 (Posted: Jun 29, 2016 1PM)

Research participant interest in primary, secondary, and incidental genomic findings.
Loud Jennifer T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr (Posted: Apr 27, 2016 10AM)

Patients' views on incidental findings from clinical exome sequencing.
Clift Kristin E et al. Applied & translational genomics 2015 Mar 438-43 (Posted: Mar 09, 2016 9AM)

Incidental findings of uncertain significance: To know or not to know - that is not the question.
Hofmann Bjørn et al. BMC medical ethics 2016 (1) 13 (Posted: Mar 03, 2016 0PM)

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.
Souzeau Emmanuelle et al. Translational vision science & technology 2016 Feb (1) 3 (Posted: Mar 03, 2016 0PM)

Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process.
Sénécal Karine et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-8 (Posted: Dec 02, 2015 9AM)

Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing.
Mack Steven J et al. Human immunology 2015 Sep (Posted: Sep 30, 2015 2PM)

Attitudes of the general public towards the disclosure of individual research results and incidental findings from biobank genomic research in Australia.
Fleming J et al. Intern Med J 2015 Sep 21. (Posted: Sep 23, 2015 0PM)

So rare we need to hunt for them: reframing the ethical debate on incidental findings.
Schuol Sebastian et al. Genome Med 2015 7(1) 83 (Posted: Aug 04, 2015 2PM)

Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
Kaphingst K A et al. Clin. Genet. 2015 Apr 13. (Posted: May 27, 2015 11AM)

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Douglas Michael P et al. Genet. Med. 2015 May 21. (Posted: May 26, 2015 1PM)

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing.
Nishimura Adam A et al. Genet. Med. 2015 Mar 5. (Posted: May 12, 2015 1PM)

Public want to know medical findings from genomic research
P Brice, PHG Foundation, April 30, 2015 (Posted: Apr 30, 2015 7PM)

On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy
Brand (Posted: Feb 25, 2015 0PM)

Reporting incidental findings in genomic scale clinical sequencing-a clinical laboratory perspective: a report of the association for molecular pathology.
Hegde Madhuri et al. J Mol Diagn 2015 Mar (2) 107-17 (Posted: Feb 19, 2015 0PM)

Return of Anticipated and Incidental Results from Next-Generation Sequencing: Implications for Providers and Patients
Janet K. Williams, et al. Discussion Paper, IOM Roundtable Genomics Translation, February 19, 2015 (Posted: Feb 19, 2015 10AM)

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
Bennette Caroline S et al. Genet. Med. 2014 Nov 13. (Posted: Feb 14, 2015 7AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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