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Howard, Heidi CarmenORCID iD iconorcid.org/0000-0001-6149-5498
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Publications (10 of 32) Show all publications
Hansson, M. G., Bouder, F. & Howard, H. C. (2018). Genetics and risk - an exploration of conceptual approaches to genetic risk. Journal of Risk Research, 21(2), 101-108
Open this publication in new window or tab >>Genetics and risk - an exploration of conceptual approaches to genetic risk
2018 (English)In: Journal of Risk Research, ISSN 1366-9877, E-ISSN 1466-4461, Vol. 21, no 2, p. 101-108Article in journal, Editorial material (Other academic) Published
National Category
Social Sciences Medical Ethics Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:uu:diva-347113 (URN)10.1080/13669877.2017.1382562 (DOI)000419609100001 ()
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-03-26 Created: 2018-03-26 Last updated: 2018-03-26Bibliographically approved
Howard, H. C., Mascalzoni, D., Mabile, L., Houeland, G., Rial-Sebbag, E. & Cambon-Thomsen, A. (2018). How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).. Journal of Community Genetics, 9(2), 169-176
Open this publication in new window or tab >>How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
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2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 169-176Article in journal (Refereed) Published
Abstract [en]

Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While many resources are being invested to ensure that comprehensive and well-organised biobanks are able to provide increased access to, and sharing of biomedical samples and information, many barriers and challenges remain to such responsible and extensive sharing. Germane to the discussion herein is the barrier to collecting and sharing bioresources related to the lack of proper recognition of researchers and clinicians who developed the bioresource. Indeed, the efforts and resources invested to set up and sustain a bioresource can be enormous and such work should be easily traced and properly recognised. However, there is currently no such system that systematically and accurately traces and attributes recognition to those doing this work or the bioresource institution itself. As a beginning of a solution to the "recognition problem", the Bioresource Research Impact Factor/Framework (BRIF) initiative was proposed almost a decade and a half ago and is currently under further development. With the ultimate aim of increasing awareness and understanding of the BRIF, in this article, we contribute the following: (1) a review of the objectives and functions of the BRIF including the description of two tools that will help in the deployment of the BRIF, the CoBRA (Citation of BioResources in journal Articles) guideline, and the Open Journal of Bioresources (OJB); (2) the results of a small empirical study on stakeholder awareness of the BRIF and (3) a brief analysis of the ethical dimensions of the BRIF which allow it to be a positive contribution to responsible biobanking.

Keywords
BRIF, Biobank, Bioresource Research Impact Factor, Bioresource sharing, Ethics, Recognition
National Category
Medical Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-333169 (URN)10.1007/s12687-017-0332-6 (DOI)000427515200006 ()28948532 (PubMedID)
Funder
EU, FP7, Seventh Framework Programme, 305444
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-05-30Bibliographically approved
de Wert, G., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., van El, C. G., Forzano, F., . . . Cornel, M. C. (2018). Human germline gene editing: Recommendations of ESHG and ESHRE. European Journal of Human Genetics, 26(4), 445-449
Open this publication in new window or tab >>Human germline gene editing: Recommendations of ESHG and ESHRE
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 4, p. 445-449Article in journal (Refereed) Published
Abstract [en]

Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique can help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. After consulting its membership and experts, this final version of the Recommendations was endorsed by the Executive Committee and the Board of the respective Societies in May 2017. Taking account of ethical arguments, we argue that both basic and pre-clinical research regarding GLGE can be justified, with conditions. Furthermore, while clinical GLGE would be totally premature, it might become a responsible intervention in the future, but only after adequate pre-clinical research. Safety of the child and future generations is a major concern. Future discussions must also address priorities among reproductive and potential non-reproductive alternatives, such as PGD and somatic editing, if that would be safe and successful. The prohibition of human germline modification, however, needs renewed discussion among relevant stakeholders, including the general public and legislators.

Place, publisher, year, edition, pages
Nature Publishing Group, 2018
National Category
Medical Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-342732 (URN)10.1038/s41431-017-0076-0 (DOI)000429542400001 ()29326428 (PubMedID)1476-5438 (Electronic) 1018-4813 (Linking) (ISBN)
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-06-08Bibliographically approved
Kalokairinou, L., Howard, H. C., Slokenberga, S., Fisher, E., Flatscher-Thöni, M., Hartlev, M., . . . Borry, P. (2018). Legislation of direct-to-consumer genetic testing in Europe:: a fragmented regulatory landscape. Journal of Community Genetics, 9(2), 117-132
Open this publication in new window or tab >>Legislation of direct-to-consumer genetic testing in Europe:: a fragmented regulatory landscape
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2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 117-132Article, review/survey (Refereed) Published
Abstract [en]

Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients’ rights.

National Category
Medical Ethics
Research subject
Medical Law
Identifiers
urn:nbn:se:uu:diva-334079 (URN)10.1007/s12687-017-0344-2 (DOI)000427515200002 ()29150824 (PubMedID)
Note

This article is part of the Topical Collection on Citizen’s Health throughpublic-private Initiatives: Public health, Market and Ethical perspectives.

Available from: 2017-11-20 Created: 2017-11-20 Last updated: 2018-05-30Bibliographically approved
Howard, H. C. & Iwarsson, E. (2018). Mapping uncertainty in genomics. Journal of Risk Research, 21(2), 117-128
Open this publication in new window or tab >>Mapping uncertainty in genomics
2018 (English)In: Journal of Risk Research, ISSN 1366-9877, E-ISSN 1466-4461, Vol. 21, no 2, p. 117-128Article in journal (Refereed) Published
Abstract [en]

The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for participants and patients. At a time when many authors predict a future in which genomic medicine will be the norm, it is particularly relevant to discuss the unknowns surrounding genetics and genomics, including the notions of risk and uncertainty. This article will present a discussion regarding the uncertainty pertaining specifically to high throughput sequencing approaches, including the topic of incidental findings. This discussion will be guided by a taxonomy of uncertainty conceptualised around three areas of uncertainty: the source of uncertainty, the issues of uncertainty and the loci of uncertainty. This taxonomy can be used as a tool by all stakeholders involved in genomics to help further understand and anticipate uncertainties in genomics. Furthermore, to better contextualize this information, and also because this contribution is born out of an international project titled Mind the Risk', which addresses risk information in genetics and genomics from many different disciplinary perspectives, another aim of this article is to briefly present the basic issues pertaining to the unknowns, risks, and uncertainties of genetics as well as genomics for an audience of non-geneticists. Ultimately, the mapping out of uncertainty in genomics should allow for a better characterization of the uncertainty and consequently for a better management and communication of these uncertainties to end-users (research participants and patients).

Place, publisher, year, edition, pages
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD, 2018
Keywords
genetics, genomics, uncertainty, taxonomy of uncertainty, incidental findings
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-341314 (URN)10.1080/13669877.2016.1215344 (DOI)000419609100003 ()
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-02-07 Created: 2018-02-07 Last updated: 2018-02-07Bibliographically approved
Howard, H. C., van El, C. G., Forzano, F., Radojkovic, D., Rial-Sebbag, E., de Wert, G., . . . Cornel, M. C. (2018). One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans. European Journal of Human Genetics, 26(1), 1-11
Open this publication in new window or tab >>One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 1, p. 1-11Article in journal (Refereed) Published
Abstract [en]

Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials. In contrast, the notion of altering the germ line or embryo such that alterations could be heritable in humans raises a large number of ELSI; it is currently debated whether it should even be allowed in the context of basic research. Even greater ELSI debates address the potential use of germ line or embryo gene editing for clinical purposes, which, at the moment is not being conducted and is prohibited in several jurisdictions. In the context of these ongoing debates surrounding gene editing, we present herein guidance to further discussion and investigation by highlighting three crucial areas that merit the most attention, time and resources at this stage in the responsible development and use of gene editing technologies: (1) conducting careful scientific research and disseminating results to build a solid evidence base; (2) conducting ethical, legal and social issues research; and (3) conducting meaningful stakeholder engagement, education and dialogue.

National Category
Medical Genetics Genetics Bioinformatics and Systems Biology Medical Ethics Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-342733 (URN)10.1038/s41431-017-0024-z (DOI)000423461800001 ()29192152 (PubMedID)1476-5438 (Electronic) 1018-4813 (Linking) (ISBN)
Funder
Riksbankens Jubileumsfond, M13-0260:1
Note

On behalf of the Public and Professional Policy Committee of the European Society of Human Genetics

Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-03-23Bibliographically approved
Niemiec, E., Vears, D. F., Borry, P. & Howard, H. C. (2018). Readability of informed consent forms for whole-exome and whole-genome sequencing. Journal of Community Genetics, 9(2), 143-151
Open this publication in new window or tab >>Readability of informed consent forms for whole-exome and whole-genome sequencing
2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 143-151Article in journal (Refereed) Published
Abstract [en]

Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied. All forms studied seem to fail to meet the average recommended readability grade level of 8 (e.g. by Institutional Review Boards of US medical schools) for IC forms, indicating that the content of the forms may not be comprehensible to many patients. The sections aimed at health care professionals (HCPs) in the forms indicate that HCPs should be responsible for explaining IC information to the patients. However, WES and WGS may be increasingly offered by primary care professionals who may not (yet) have sufficient training to be able to communicate effectively with patients about genomics. Therefore, to secure an adequate, truly informed consent process, the task of developing good, legible examples of IC forms along with educating HCPs in genomics should be taken seriously, and adequate resources should be allocated to enable these tasks.

Keywords
Genetic counselling, Informed consent, Readability, Whole exome sequencing, Whole genome sequencing
National Category
Medical Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-342730 (URN)10.1007/s12687-017-0324-6 (DOI)000427515200004 ()28856579 (PubMedID)1868-310X (Print) 1868-310X (Linking) (ISBN)
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-05-29Bibliographically approved
De Wert, G., Heindryckx, B., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., van El, C. G., . . . Cornel, M. C. (2018). Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE. European Journal of Human Genetics, 26(4), 450-470
Open this publication in new window or tab >>Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 4, p. 450-470Article in journal (Refereed) Published
Abstract [en]

Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, preclinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g., gene editing goes against nature) do not seem convincing while consequentialist objections (e.g., safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.

Place, publisher, year, edition, pages
Nature Publishing Group, 2018
National Category
Medical Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-342731 (URN)10.1038/s41431-017-0077-z (DOI)000429542400002 ()1476-5438 (Electronic) 1018-4813 (Linking) (ISBN)
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-06-07Bibliographically approved
Borry, P., Bentzen, H. B., Budin-Ljøsne, I., Cornel, M. C., Howard, H. C., Feeney, O., . . . Felzmann, H. (2018). The challenges of the expanded availability of genomic information: an agenda-setting paper.. Journal of Community Genetics, 9(2), 103-116
Open this publication in new window or tab >>The challenges of the expanded availability of genomic information: an agenda-setting paper.
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2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 103-116Article in journal (Refereed) Published
Abstract [en]

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 "Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives," participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area.

Keywords
Clinical and research genomic data, Data sharing, Direct-to-consumer genetic testing, Genomics, Informed consent, Return of results
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:uu:diva-343406 (URN)10.1007/s12687-017-0331-7 (DOI)000427515200001 ()28952070 (PubMedID)
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-02-27 Created: 2018-02-27 Last updated: 2018-05-29Bibliographically approved
Niemiec, E., Kalokairinou, L. & Howard, H. C. (2017). Current ethical and legal issues in health-related direct-to-consumer genetic testing. Personalized Medicine, 14(5), 433-445
Open this publication in new window or tab >>Current ethical and legal issues in health-related direct-to-consumer genetic testing
2017 (English)In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 14, no 5, p. 433-445Article, review/survey (Refereed) Published
National Category
Pharmaceutical Sciences
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-343698 (URN)10.2217/pme-2017-0029 (DOI)000411484800009 ()
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-05-08Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0001-6149-5498

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