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Howard, Heidi Carmen
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Publications (10 of 27) 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. & 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
Keyword
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., 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: 2018-03-21Bibliographically approved
Middleton, A., Mendes, A., Benjamin, C. M. & Howard, H. C. (2017). Direct-to-consumer genetic testing: where and how does genetic counseling fit?. Personalized Medicine, 14(3), 249-257
Open this publication in new window or tab >>Direct-to-consumer genetic testing: where and how does genetic counseling fit?
2017 (English)In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 14, no 3, p. 249-257Article in journal (Refereed) Published
Abstract [en]

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to 'research' results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being 'direct-to-consumer' much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces.

Place, publisher, year, edition, pages
FUTURE MEDICINE LTD, 2017
Keyword
CHIP ME, connecting science, direct-to-consumer, DTCGT, genetic counseling, genetic test, genomics, website
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-325345 (URN)10.2217/pme-2017-0001 (DOI)000401651400010 ()
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2017-06-22 Created: 2017-06-22 Last updated: 2017-06-22Bibliographically approved
Kalokairinou, L., Howard, H. C., Slokenberga, S., Fisher, E., Flatscher-Thöni, M., Hartlev, M., . . . Borry, P. (2017). Legislation of direct-to-consumer genetic testing in Europe:: a fragmented regulatory landscape. Journal of Community Genetics
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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2017 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001Article, 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
Social Sciences
Research subject
Medical Law
Identifiers
urn:nbn:se:uu:diva-334079 (URN)10.1007/s12687-017-0344-2 (DOI)
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: 2017-11-23Bibliographically approved
Kalokairinou, L., Borry, P. & Howard, H. C. (2017). Regulating the advertising of genetic tests in Europe: a balancing act. Journal of Medical Genetics, 54(10), 651-656
Open this publication in new window or tab >>Regulating the advertising of genetic tests in Europe: a balancing act
2017 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 54, no 10, p. 651-656Article in journal (Refereed) Published
Abstract [en]

Direct-to-consumer (DTC) genetic tests (GT) have provoked criticism over their potential adverse impact on public health. The European Parliament called for a ban on DTC advertising of GT during the debate for the adoption of a European Regulation on in vitro diagnostic medical devices. This proposal, however, was not ultimately retained in the final text. Instead, the regulation includes an article prohibiting misleading claims for this kind of advertising. These two different approaches raise questions about the optimal degree of regulation. Herein, we provide an overview of the ways GT have been advertised and related ethical issues. Subsequently, the laws regulating the advertising of GT at the European Union and national level are examined. Finally, recent regulatory developments are discussed.

National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-336308 (URN)10.1136/jmedgenet-2017-104531 (DOI)000410928700001 ()28735297 (PubMedID)
Available from: 2018-01-18 Created: 2018-01-18 Last updated: 2018-01-18Bibliographically approved
Oliveri, S., Howard, H. C., Renzi, C., Hansson, M. . & Pravettoni, G. (2016). Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?. Journal of Medical Genetics, 53(12), 798-799
Open this publication in new window or tab >>Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?
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2016 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 53, no 12, p. 798-799Article in journal, Editorial material (Refereed) Published
National Category
Medical Ethics Medical Genetics
Identifiers
urn:nbn:se:uu:diva-316212 (URN)10.1136/jmedgenet-2016-104184 (DOI)000391457200002 ()27647845 (PubMedID)
Available from: 2017-02-27 Created: 2017-02-27 Last updated: 2018-01-13Bibliographically approved
Niemiec, E., Borry, P., Pinxten, W. & Howard, H. C. (2016). Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies. Human Mutation, 37(12), 1248-1256
Open this publication in new window or tab >>Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
2016 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 37, no 12, p. 1248-1256Article in journal (Refereed) Published
Abstract [en]

Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies' Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process.

Keyword
whole genome sequencing, whole exome sequencing, direct-to-consumer genetic testing, consumer genomics, informed consent
National Category
Medical Ethics Medical Genetics
Identifiers
urn:nbn:se:uu:diva-312053 (URN)10.1002/humu.23122 (DOI)000388701600002 ()27647801 (PubMedID)
Available from: 2017-01-04 Created: 2017-01-04 Last updated: 2018-01-13Bibliographically approved
Niemiec, E. & Howard, H. C. (2016). Ethical issues in consumer genome sequencing: Use of consumers' samples and data. APPLIED AND TRANSLATIONAL GENOMICS, 8, 23-30
Open this publication in new window or tab >>Ethical issues in consumer genome sequencing: Use of consumers' samples and data
2016 (English)In: APPLIED AND TRANSLATIONAL GENOMICS, ISSN 2212-0661, Vol. 8, p. 23-30Article in journal (Refereed) Published
Abstract [en]

High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and transparency of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the "Statement of the European Society of Human Genetics on DTC GT for health-related purposes" (2010) and the "Framework for responsible sharing of genomic and health-related data" (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the datawith third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding handling of consumers' samples and data, including having an explicit and clear consent process for research activities.

Keyword
Whole-genome sequencing, Whole-exome sequencing, Direct-to-consumer genetic testing, Consumer genomics, Human genome research, Consent
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-294326 (URN)10.1016/j.atg.2016.01.005 (DOI)000372979700005 ()27047756 (PubMedID)
Available from: 2016-05-18 Created: 2016-05-18 Last updated: 2016-05-18Bibliographically approved
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