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Howard, Heidi Carmen
Alternative names
Publications (10 of 23) Show all publications
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, 249-257 p.Article 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, 651-656 p.Article 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, 798-799 p.Article 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, 1248-1256 p.Article 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, 23-30 p.Article 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
Henneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., van El, C. G., Forzano, F., . . . Peterlin, B. (2016). Responsible implementation of expanded carrier screening. European Journal of Human Genetics, 24(6), E1-E12.
Open this publication in new window or tab >>Responsible implementation of expanded carrier screening
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2016 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 24, no 6, E1-E12 p.Article in journal (Refereed) Published
Abstract [en]

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

National Category
Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) Medical Ethics
Identifiers
urn:nbn:se:uu:diva-297766 (URN)10.1038/ejhg.2015.271 (DOI)000375706800001 ()26980105 (PubMedID)
Available from: 2016-06-28 Created: 2016-06-28 Last updated: 2017-11-28Bibliographically approved
Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., . . . Cornel, M. C. (2015). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. European Journal of Human Genetics, 23(11), 1438-1450.
Open this publication in new window or tab >>Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
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2015 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 11, 1438-1450 p.Article in journal (Refereed) Published
Abstract [en]

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

National Category
Genetics Medical Ethics
Identifiers
urn:nbn:se:uu:diva-266712 (URN)10.1038/ejhg.2015.57 (DOI)000362916200005 ()25782669 (PubMedID)
Available from: 2015-11-11 Created: 2015-11-10 Last updated: 2017-12-01Bibliographically approved
Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., . . . Rogowski, W. H. (2015). Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. European Journal of Human Genetics, 23, 729-735.
Open this publication in new window or tab >>Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness
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2015 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, 729-735 p.Article in journal (Refereed) Published
Abstract [en]

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.

National Category
Health Care Service and Management, Health Policy and Services and Health Economy
Identifiers
urn:nbn:se:uu:diva-245799 (URN)10.1038/ejhg.2014.190 (DOI)000354474600009 ()25248395 (PubMedID)
Available from: 2015-03-01 Created: 2015-03-01 Last updated: 2017-12-04Bibliographically approved
Howard, H. C., Knoppers, B. M., Cornel, M. C., Wright Clayton, E., Sénécal, K. & Borry, P. (2015). Whole-genome sequencing in newborn screening?: A statement on the continued importance of targeted approaches in newborn screening programmes. European Journal of Human Genetics, 23(12), 1593-1600.
Open this publication in new window or tab >>Whole-genome sequencing in newborn screening?: A statement on the continued importance of targeted approaches in newborn screening programmes
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2015 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 12, 1593-1600 p.Article in journal (Refereed) Published
Abstract [en]

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.

National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-245795 (URN)10.1038/ejhg.2014.289 (DOI)000365129700003 ()25626707 (PubMedID)
Available from: 2015-03-01 Created: 2015-03-01 Last updated: 2017-12-04Bibliographically approved
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