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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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70 hot topic(s) found with the query "Informed consent "

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. "

Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.
Danya F Vears et al. Eur J Hum Genet 2023 10 (Posted: Oct 23, 2023 8AM)

From the abstract: "Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. "

Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature.
Julie-Anne R Smit et al. Eur J Hum Genet 2023 10 (Posted: Oct 19, 2023 2PM)

From the abstract: " We performed a systematic review of relevant soft law instruments and academic literature to identify what measures are mentioned in those documents. Our analysis resulted in the identification of four overarching themes of suggested measures: organizational measures; technical measures; oversight and review mechanisms; and public engagement and participation. Some of the suggested measures do not substantially contribute to the clarification of the GDPR’s “suitable and specific measures” requirement because they remain vague or broad in nature and encompass all types of data processing. "

The reuse of genetic information in research and informed consent
D Lorenzo et al, EJHG, September 13, 2023 (Posted: Sep 14, 2023 8AM)

From the abstract: "Important advances in genetics research have been made in recent years. Such advances have facilitated the availability of huge amounts of genetic information that could potentially be reused beyond the original purpose for which such information was obtained. Any such reuse must meet certain ethical criteria to ensure that the dignity, integrity, and autonomy of the individual from whom that information was obtained are protected. "

No need for options for choice for unsolicited findings in informed consent for clinical genetic testing
EM Bunnik, EJHGH July 13, 2023 (Posted: Jul 14, 2023 1PM)

Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
MLG Hallquist et al, EJHG, June 12, 2023 (Posted: Jun 12, 2023 9AM)

The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for genetic testing can be covered with a targeted discussion for many conditions rather than a time-intensive traditional genetic counseling approach. We surveyed US genetics professionals (medical geneticists and genetic counselors) on their response to scenarios that proposed core informed consent concepts for clinical genetic testing.

The future is mainstream: genetic counselling should be embedded in mainstream medicine
E Quinn, EJHG, June 1, 2023 (Posted: Jun 01, 2023 6AM)

With genomic testing playing such a vital role in guiding both diagnosis and treatment, we can reasonably expect demand to further increase. The question remains how we can offer testing at scale whilst ensuring that patients receive appropriate levels of holistic care: facilitating informed consent, supporting patient understanding and processing of genomic results and establishing appropriate follow-up for family members.

"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023 1 (Posted: Jan 23, 2023 1PM)

Five main themes emerged: (i) access to genetic healthcare services is inequitable, with several barriers to the informed consent process; (ii) the experiences and opinions of people with intellectual disability are variable, including frustration, exclusion and fear; (iii) genetic counselling and diagnoses can be profoundly impactful, but translating a genetic diagnosis into tailored healthcare, appropriate support, peer connections and reproductive planning faces barriers; (iv) people with intellectual disability have a high incidence of exposure to trauma and some reported that their genetic healthcare experiences were associated with further trauma; (v) recommendations for a more respectful and inclusive model of genetic healthcare.

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Terrill Bronwyn et al. European journal of human genetics : EJHG 2023 1 1-5 (Posted: Jan 15, 2023 3PM)

Equitable and Informed Consent in Genetic Studies.
Navar Ann Marie et al. JAMA cardiology 2022 11 (Posted: Nov 18, 2022 6AM)

As costs of genetic sequencing have declined and access to testing has become more widespread, genetic epidemiology studies are increasingly conducted to identify new pathogenic variants and understand the prevalence and implications of known pathogenic variants. Ensuring diversity in these studies is critical to ensure the generalizability of their results. Unfortunately, people of African and Latin American ancestry and Indigenous populations are underrepresented in clinical research and even more so in genetic studies. This is a particular concern in nonischemic dilated cardiomyopathy (DCM), a disease that disproportionately affects Black persons in the United States.

Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing.
Ziegler Emily et al. Public health genomics 2022 9 1-10 (Posted: Sep 29, 2022 8AM)

This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities’ use of data and more reference to community engagement.

Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process
D Mascalzoni et al, EJHG, September 5, 2022 (Posted: Sep 05, 2022 6AM)

Variation among DNA banking consent forms: points for clinicians to bank on.
Huang Samuel J et al. Journal of community genetics 2022 7 (Posted: Jul 15, 2022 5AM)

The objectives of this study were to assess the level of consistency of current clinical DNA banking consent forms with the American Society of Human Genetics (ASHG) and the American College of Medical Genetics and Genomics (ACMG) guidance and to explore variation among the forms. The content analysis matrix included key points identified from the ASHG and ACMG documents (including benefits/risks, sample storage, access, disposition, and communication).

Many researchers say they’ll share data — but don’t
C Watson, Nature, June 21, 2022 (Posted: Jun 21, 2022 8AM)

Reasons included a lack of informed consent or ethics approval to share; misplaced data; and that others had moved on from the project. The team identified 381 articles with links to data stored in online repositories and another 1,792 papers for which the authors indicated in statements that their data sets would be available on reasonable request. The remaining studies stated that their data were in the published manuscript and its supplements, or generated no data, so sharing did not apply. But of the 1,792 manuscripts for which the authors stated they were willing to share their data, more than 90% of corresponding authors either declined or did not respond to requests for raw data

Translational Science, DNA Commercialization, and Informed Consent: The Need for Specific Terminology, Insights from a Review of H3Africa Projects
P Marshall et al, Public Health Genomics, March 2022 (Posted: Mar 13, 2022 10AM)

Eighteen investigators submitted documents for projects involving data sharing and use of genetic information. A total of 39 informed consent documents associated with the 18 projects were reviewed. All 18 projects specified that samples would be used in future research. Less than half of the projects included language noting that samples could be used in drug or product development, that DNA samples would not be sold, and that profits would not be shared with participants. Four projects referred to commercialization. Analysis of information included in consent documents contributed to the development of a Commercialization Typology. The Typology identifies factors to consider regarding acceptability of particular instances of commercialization. DNA samples for translational research in product development require a transparent commercialization framework to inform the consent process.

Health data: when children reach the age of consent
JH Ward, Nature Medicine, January 6, 2022 (Posted: Jan 12, 2022 10AM)

Parents give consent for their children’s health data to be used in research, but what happens when the children reach adulthood, and how can researchers keep families involved in the meantime? Many participants in genomics research have considerable learning difficulties and/or developmental delays, which may mean that their parents continue to be the primary decision-makers throughout their lives. Many other participants have very sound cognitive abilities, which will make it easy for them to decide what should happen with their data when they reach adulthood.

Use of Genomics in Newborn Screening Programs: The Promise and Challenges
CDC September 21 webinar Brand (Posted: Jun 17, 2021 9AM)

While some have called for newborn screening using whole exome or whole genome sequencing, substantial barriers exist, including cost, privacy, equity in access, and the need for informed consent for sequencing of identifiable individuals. However, these technologies could play a role in testing those who screen positive using initial biochemical screens. Join us as we discuss both current and potential future use of genomics in newborn screening.

Mainstreaming informed consent for genomic sequencing: A call for action.
Bunnik Eline M et al. European journal of cancer (Oxford, England : 1990) 2021 148405-410 (Posted: Apr 02, 2021 10AM)

This paper outlines what mainstream oncologists may learn from the ethical tradition of informed consent for genomic sequencing, as developed within clinical genetics. It argues that mainstream informed consent practices should focus on preparing patients for three types of unsolicited outcomes, briefly and effectively.

'CTRL': an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research.
Haas Matilda A et al. European journal of human genetics : EJHG 2021 Jan (Posted: Jan 09, 2021 0PM)

The complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired by the potential for Dynamic Consent to increase participant choice and autonomy in decision-making, as well as the opportunities for ongoing participant engagement it affords, we wanted to trial Dynamic Consent and to do so developed our own web-based application (web app) called CTRL (control).

Reflections on dynamic consent in biomedical research: the story so far.
Teare Harriet J A et al. European journal of human genetics : EJHG 2020 Nov (Posted: Nov 30, 2020 10AM)

Dynamic consent (DC) was originally developed in response to challenges to the informed consent process presented by participants agreeing to ‘future research’ in biobanking. In the past 12 years, it has been trialled in a number of different projects, and examined as a new approach for consent and to support patient engagement over time

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
EC de Wert et al, JHG, November 22, 2020 (Posted: Nov 23, 2020 8AM)

The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm.

As genome-editing trials become more common, informed consent is changing
Science Daily, October 12, 2020 (Posted: Oct 14, 2020 8AM)

As public interest and expanded research in human genome editing grows, many questions remain about ethical, legal and social implications of the technology. People who are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes properly understanding informed consent, the full knowledge of risks and benefits of treatments, especially important.

The ethics of deferred consent in times of pandemics
RVD Graaf et al, Nature Medicine, July 10, 2020 (Posted: Jul 11, 2020 7AM)

In the current COVID-19 pandemic, many researchers are applying to research ethics committees for deferred-consent procedures for protocols that aim either to test treatments or to obtain tissue or samples from research participants. However, the deferred-consent procedure has not been developed for pandemics.

Informed Consent for Genetic Testing in Autopsy.
Gatter Ken et al. Archives of pathology & laboratory medicine 2020 Jan (Posted: Jan 29, 2020 7AM)

Informed Consent in the Genomics Era.
Rego Shannon et al. Cold Spring Harbor perspectives in medicine 2019 Sep (Posted: Oct 09, 2019 8AM)

A Professional Standard for Informed Consent for Stem Cell Therapies
J Sugarman et al, JAMA, August 12, 2019 (Posted: Aug 13, 2019 8AM)

The ISSCR developed a professional standard for consent by assembling a task force of experts in stem cells, clinical practice, ethics, and the law. The task force created a draft standard, which was then reviewed by 30 individuals from 9 countries and revised based on their comments.

Time to discuss consent in digital-data studies
Nature editorial, July 31, 2019 (Posted: Aug 01, 2019 8AM)

Anonymized data sets are growing and it is becoming easier to identify individuals. Research-consent procedures must be updated to protect people's privacy and confidentiality.

Overvaluing individual consent ignores risks to tribal participants
KS Tsosie et al, Nature Rev Genetics, July 15, 2019 (Posted: Jul 16, 2019 8AM)

Genomic studies often rely on individual-based consent approaches for tribal members residing outside of their communities. This consent model fails to acknowledge the risks to small groups such as tribes, which can implicate the community as a whole.

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

Unique characteristics of informed consent in clinical genetics and genetic counselling.
Havlovicová Markéta et al. Casopis lekaru ceskych 2019 158(1) 38-43 (Posted: May 08, 2019 9AM)

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Sanderson Saskia C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct (Posted: Oct 06, 2018 9AM)

Consent and participation in the 100,000 Genomes Project – public attitudes
Genomics England, July 18, 2018 (Posted: Jul 22, 2018 2PM)

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
KE Ormond et al, Genetics in Medicine, July 6, 2018 (Posted: Jul 06, 2018 8AM)

Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing.
Spector-Bagdady Kayte et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar (Posted: Mar 27, 2018 1PM)

Informed consent in field trials of gene-drive mosquitoes.
Kolopack Pamela A et al. Gates open research 2017 Dec 14 (Posted: Feb 16, 2018 1PM)

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study
E Turbitt et al, Eur J Hum Genetics, Feb 16, 2018 (Posted: Feb 16, 2018 1PM)

Readability of informed consent forms for whole-exome and whole-genome sequencing.
Niemiec Emilia et al. Journal of community genetics 2017 Aug (Posted: Sep 06, 2017 11AM)

Participants' Understanding of Informed Consent for Biobanking: A Systematic Review.
Eisenhauer Elizabeth R et al. Clinical nursing research 2017 Jul 1054773817722690 (Posted: Aug 02, 2017 8AM)

Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.
Kost Rhonda G et al. Journal of clinical and translational science 2017 Apr 1(2) 115-120 (Posted: Jul 05, 2017 9AM)

Informed Consent: The Case of “-Omics” Literacy
Hammer Marilyn et al. Oncology nursing forum 2017 01 (1) 28-30 (Posted: Mar 14, 2017 0PM)

Informed Consent
J Drazen et al, NEJM, March 2017 (Posted: Mar 06, 2017 6PM)

Revamping the US Federal Common Rule: Modernizing Human Participant Research Regulations.
Hodge James G et al. JAMA 2017 Feb (Posted: Mar 05, 2017 2PM)

Past, Present, and Future of Informed Consent in Pain and Genomics Research: Challenges Facing Global Medical Community.
Compagnone Christian et al. Pain practice : the official journal of World Institute of Pain 2016 Aug (Posted: Aug 31, 2016 9AM)

Consenting postpartum women for use of routinely collected biospecimens and/or future biospecimen collection.
Kozinetz Claudia A et al. Journal of community genetics 2016 Feb (Posted: Feb 17, 2016 0PM)

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.
Gainotti Sabina et al. European journal of human genetics : EJHG 2016 Feb (Posted: Feb 17, 2016 0PM)

Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations.
Karlson Elizabeth W et al. Journal of personalized medicine 6(1) (Posted: Jan 20, 2016 11AM)

Preparing for the consent conversation
Genomics Education Program UK (Posted: Dec 11, 2015 11AM)

Obtaining informed consent for genomics research in Africa: analysis of H3Africa consent documents.
Munung Nchangwi Syntia et al. Journal of medical ethics 2015 Dec (Posted: Dec 09, 2015 9AM)

Precision medicine ethics: selected issues and developments in next-generation sequencing, clinical oncology, and ethics.
Fiore Robin N et al. Current opinion in oncology 2015 Nov (Posted: Nov 19, 2015 0PM)

A systematic literature review of individualsÂ’ perspectives on broad consent and data sharing in the United States
NA Garrison et al, Genetics in Medicine, November 18, 2015 (Posted: Nov 19, 2015 0PM)

Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.
Oberg Jennifer A et al. Pediatr Blood Cancer 2015 Aug (8) 1374-80 (Posted: Jul 27, 2015 9AM)

"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.
Tomlinson Ashley N et al. J Genet Couns 2015 Apr 26. (Posted: Jul 27, 2015 9AM)

Parental Consent for the Use of Residual Newborn Screening Bloodspots: Respecting Individual Liberty vs Ensuring Public Health.
Bayefsky Michelle J et al. JAMA 2015 Jul 7. (1) 21-2 (Posted: Jul 27, 2015 9AM)

Drifting Away from Informed Consent in the Era of Personalized Medicine.
Parens Erik et al. Hastings Cent Rep 2015 Jul (4) 16-20 (Posted: Jul 27, 2015 9AM)

Experiences with obtaining informed consent for genomic sequencing.
Bernhardt Barbara A et al. Am. J. Med. Genet. A 2015 Jul 21. (Posted: Jul 27, 2015 9AM)

Preliminary Guidance Related to Informed Consent for Research on Dried Blood Spots Obtained Through Newborn Screening
NIH, July 2015 Brand (Posted: Jul 27, 2015 9AM)

Fair Shares and Sharing Fairly: A Survey of Public Views on Open Science, Informed Consent and Participatory Research in Biobanking.
Joly Yann et al. PLoS ONE 2015 (7) e0129893 (Posted: Jul 17, 2015 11AM)

Using community-based participatory research principles to develop more understandable recruitment and informed consent documents in genomic research.
Skinner Harlyn G et al. PLoS ONE 2015 10(5) e0125466 (Posted: May 06, 2015 10AM)

Informed Consent and Health Literacy: Workshop Summary
Institute of Medicine Workshop Report, March 16, 2015 (Posted: Mar 16, 2015 9AM)

Enduring and emerging challenges of informed consent.
Grady Christine et al. N. Engl. J. Med. 2015 Feb 26. (9) 855-62 (Posted: Feb 27, 2015 11AM)

National Human Genome Research Institute updates online resource on informed consent for genomics research
By Raymond MacDougall, February 4, 2015 (Posted: Feb 12, 2015 8AM)

National Human Genome Research Institute: Informed Consent Resources for Genomics Research
(Posted: Feb 12, 2015 8AM)

Genetic screening and testing in an episode-based payment model: preserving patient autonomy.
Sutherland Sharon et al. Obstetrics and gynecology 2014 Nov (5) 987-91 (Posted: Feb 12, 2015 8AM)

The emerging need for family-centric initiatives for obtaining consent in personal genome research.
Minari Jusaku et al. Genome medicine 2014 (12) 118 (Posted: Feb 12, 2015 8AM)

NIH policy supports broader sharing of genomic data, strengthens informed-consent rules: Research participants must give consent for secondary sharing, even if data are de-identified.
Am J Med Genet A. 2015 Jan;167(1):viii-ix. (Posted: Feb 12, 2015 8AM)

Researchers' views on informed consent for return of secondary results in genomic research.
Appelbaum Paul S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec (Posted: Feb 12, 2015 8AM)

Testing an online, dynamic consent portal for large population biobank research.
Thiel Daniel B et al. Public health genomics 2015 (1) 26-39 (Posted: Feb 12, 2015 8AM)

Informed consent and ethical re-use of African genomic data.
Wright Galen et al. Human genomics 2014 Oct (1) 18 (Posted: Feb 12, 2015 8AM)

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
Scollon Sarah et al. Genome medicine 2014 (9) 69 (Posted: Feb 12, 2015 8AM)

The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.
Henderson Gail E et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 (3) 344-55 (Posted: Feb 12, 2015 8AM)


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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