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Peer reviewed publications by Anna Middleton

Research paper thumbnail of The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors on behalf of the Association of Genetic Nurses and Counsellors (AGNC

In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical s... more In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic information effectively. They can offer education and support to the MDT, while providing management advice for both affected patients and the extended at-risk family members. As genomic technologies are implemented across many disciplines within healthcare, genetic counsellors are playing a key role in enabling non-genetic health professionals learn, understand and integrate genomic data into their practice. They are also involved in curriculum development, workforce planning, research, regulation and policy creation – all with the aim of ensuring a robust evidence base from which to practise, together with clear guidelines on what constitutes competence and good practice. The Association of Genetic Nurses and Counsellors (AGNC) in The United Kingdom (UK) and Republic of Ireland is committed to supporting genetic counsellors, across all sectors of healthcare and research, as they help deliver genomic medicine for the patient, family and world-class health services.

[Research paper thumbnail of Open Peer Review Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved](https://attachments.academia-assets.com/52323055/thumbnails/1.jpg)

Despite advances in genomic science stimulating an explosion of literature around returning healt... more Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been widely considered. Through direct involvement in large-scale translational genomics studies, we have identified a number of logistical challenges that would need to be overcome prior to returning individual genome sequence data, including verifying that the data belong to the requestor and providing appropriate informatics support. In addition, we identify a number of ethico-legal issues that require careful consideration, including returning data to family members, mitigating against unintended consequences, and ensuring appropriate governance. Finally, recognising that there is an opportunity cost to addressing these issues, we make some specific pragmatic suggestions for studies that are considering whether to share individual genomic datasets with individual study participants. If data are shared, research should be undertaken into the personal, familial and societal impact of receiving individual genome sequence data.

Research paper thumbnail of No expectation to share incidental findings in genomic research

Research paper thumbnail of Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland

European journal of human genetics : EJHG, 2014

Research paper thumbnail of Finding people who will tell you their thoughts on genomics—recruitment strategies for social sciences research

Journal of Community Genetics, 2014

Research paper thumbnail of Online questionnaire development: Using film to engage participants and then gather attitudes towards the sharing of genomic data

Social science research, 2014

Research paper thumbnail of Policy challenges of clinical genome sequencing

British Medical Journal, 2014

Research paper thumbnail of Empirical Research on the Ethics of Genomic Research

American Journal of Medical Genetics Part 1, 2013

Research paper thumbnail of Communication about DTC testing: commentary on a 'family experience of personal genomics'

Journal of Genetic Counseling, 2012

Research paper thumbnail of Communicating in a healthcare setting with people who have hearing loss

British Medical Journal, 2010

Research paper thumbnail of Clause 14(4)(9) of embryo bill should be amended or deleted

British Medical Journal, 2008

Research paper thumbnail of Whose Deaf Genes Are They Anyway?: The Deaf Community’s Challenge to Legislation on Embryo Selection

Sign Language Studies, 2010

Research paper thumbnail of Views, Knowledge, and Beliefs about Genetics and Genetic Counseling among Deaf People

Sign Language Studies, 2010

Research paper thumbnail of Tailoring genetic information and services to clients' culture, knowledge and language level

Nursing standard (Royal College of Nursing (Great Britain) : 1987)

Research paper thumbnail of Preferences for communication in clinic from deaf people: a cross-sectional study: Communication preference for deaf people

Journal of Evaluation in Clinical Practice, 2010

Aims and objectives To explore the preferences of deaf people for communication in a hospital co... more Aims and objectives To explore the preferences of deaf people for communication in a hospital consultation.Methods Design – cross-sectional survey, using a structured, postal questionnaire. Setting – survey of readers of two journals for deaf and hard of hearing people. Participants – 999 self-selected individuals with hearing loss in the UK, including those who use sign language and those who use speech. Main outcome measures – preferred mode of communication.Results A total of 11% of participants preferred to use sign language within everyday life, 70% used speech and 17% used a mixture of sign and speech. Within a clinic setting, 50% of the sign language users preferred to have a consultation via a sign language interpreter and 43% indicated they would prefer to only have a consultation directly with a signing health professional; 7% would accept a consultation in speech as long as there was good deaf awareness from the health professional, indicated by a knowledge of lip-reading/speech-reading. Of the deaf speech users, 98% preferred to have a consultation in speech and of this group 71% indicated that they would only accept this if the health professional had good deaf awareness. Among the participants who used a mixture of sign language and speech, only 5% said they could cope with a consultation in speech with no deaf awareness whereas 46% were accepting of a spoken consultation as long as it was provided with good deaf awareness; 30% preferred to use an interpreter and 14% preferred to have a consultation directly with a signing health professional.Conclusions The hospital communication preferences for most people with deafness could be met by increasing deaf awareness training for health professionals, a greater provision of specialized sign language interpreters and of health professionals who can use fluent sign language directly with clients in areas where contact with deaf people is frequent.

Research paper thumbnail of Deaf Community and Genetics

Encyclopaedia of Life Sciences eLS, 2013

Research paper thumbnail of Editorial on Supervision

Journal of Genetic Counseling, 2007

This Editorial provides background information to inform the report from the United Kingdom (UK) ... more This Editorial provides background information to inform the report from the United Kingdom (UK) and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision. We begin by introducing the context of practice as a genetic counselor in the UK and then follow with an overview of events that have happened in our profession that led to the need and creation of the report. Genetic counseling supervision has become instrumental to our practice, training and registration as genetic counselors in the UK.

Research paper thumbnail of Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision

Journal of Genetic Counseling, 2007

The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which r... more The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which represents genetic counsellors and genetic nurses in the United Kingdom (UK) and Eire. The AGNC recognises that genetic counselling supervision is instrumental to the practice, training and registration of genetic counsellors in the UK. The AGNC formed a Supervision Working Group, whose terms of reference were to collate information on supervision and create a list of ‘best practice’ recommendations for its genetic counsellor members. This report delivers the findings from the Supervision Working Group and has been peer reviewed by the AGNC membership in the UK and Eire and ratified by the AGNC Committee. It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations.

Research paper thumbnail of Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness

American Journal of Human Genetics, 1998

Research paper thumbnail of Reply to Michie and Marteau

American Journal of Human Genetics, 1999

Research paper thumbnail of The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors on behalf of the Association of Genetic Nurses and Counsellors (AGNC

In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical s... more In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic information effectively. They can offer education and support to the MDT, while providing management advice for both affected patients and the extended at-risk family members. As genomic technologies are implemented across many disciplines within healthcare, genetic counsellors are playing a key role in enabling non-genetic health professionals learn, understand and integrate genomic data into their practice. They are also involved in curriculum development, workforce planning, research, regulation and policy creation – all with the aim of ensuring a robust evidence base from which to practise, together with clear guidelines on what constitutes competence and good practice. The Association of Genetic Nurses and Counsellors (AGNC) in The United Kingdom (UK) and Republic of Ireland is committed to supporting genetic counsellors, across all sectors of healthcare and research, as they help deliver genomic medicine for the patient, family and world-class health services.

[Research paper thumbnail of Open Peer Review Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved](https://attachments.academia-assets.com/52323055/thumbnails/1.jpg)

Despite advances in genomic science stimulating an explosion of literature around returning healt... more Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been widely considered. Through direct involvement in large-scale translational genomics studies, we have identified a number of logistical challenges that would need to be overcome prior to returning individual genome sequence data, including verifying that the data belong to the requestor and providing appropriate informatics support. In addition, we identify a number of ethico-legal issues that require careful consideration, including returning data to family members, mitigating against unintended consequences, and ensuring appropriate governance. Finally, recognising that there is an opportunity cost to addressing these issues, we make some specific pragmatic suggestions for studies that are considering whether to share individual genomic datasets with individual study participants. If data are shared, research should be undertaken into the personal, familial and societal impact of receiving individual genome sequence data.

Research paper thumbnail of No expectation to share incidental findings in genomic research

Research paper thumbnail of Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland

European journal of human genetics : EJHG, 2014

Research paper thumbnail of Finding people who will tell you their thoughts on genomics—recruitment strategies for social sciences research

Journal of Community Genetics, 2014

Research paper thumbnail of Online questionnaire development: Using film to engage participants and then gather attitudes towards the sharing of genomic data

Social science research, 2014

Research paper thumbnail of Policy challenges of clinical genome sequencing

British Medical Journal, 2014

Research paper thumbnail of Empirical Research on the Ethics of Genomic Research

American Journal of Medical Genetics Part 1, 2013

Research paper thumbnail of Communication about DTC testing: commentary on a 'family experience of personal genomics'

Journal of Genetic Counseling, 2012

Research paper thumbnail of Communicating in a healthcare setting with people who have hearing loss

British Medical Journal, 2010

Research paper thumbnail of Clause 14(4)(9) of embryo bill should be amended or deleted

British Medical Journal, 2008

Research paper thumbnail of Whose Deaf Genes Are They Anyway?: The Deaf Community’s Challenge to Legislation on Embryo Selection

Sign Language Studies, 2010

Research paper thumbnail of Views, Knowledge, and Beliefs about Genetics and Genetic Counseling among Deaf People

Sign Language Studies, 2010

Research paper thumbnail of Tailoring genetic information and services to clients' culture, knowledge and language level

Nursing standard (Royal College of Nursing (Great Britain) : 1987)

Research paper thumbnail of Preferences for communication in clinic from deaf people: a cross-sectional study: Communication preference for deaf people

Journal of Evaluation in Clinical Practice, 2010

Aims and objectives To explore the preferences of deaf people for communication in a hospital co... more Aims and objectives To explore the preferences of deaf people for communication in a hospital consultation.Methods Design – cross-sectional survey, using a structured, postal questionnaire. Setting – survey of readers of two journals for deaf and hard of hearing people. Participants – 999 self-selected individuals with hearing loss in the UK, including those who use sign language and those who use speech. Main outcome measures – preferred mode of communication.Results A total of 11% of participants preferred to use sign language within everyday life, 70% used speech and 17% used a mixture of sign and speech. Within a clinic setting, 50% of the sign language users preferred to have a consultation via a sign language interpreter and 43% indicated they would prefer to only have a consultation directly with a signing health professional; 7% would accept a consultation in speech as long as there was good deaf awareness from the health professional, indicated by a knowledge of lip-reading/speech-reading. Of the deaf speech users, 98% preferred to have a consultation in speech and of this group 71% indicated that they would only accept this if the health professional had good deaf awareness. Among the participants who used a mixture of sign language and speech, only 5% said they could cope with a consultation in speech with no deaf awareness whereas 46% were accepting of a spoken consultation as long as it was provided with good deaf awareness; 30% preferred to use an interpreter and 14% preferred to have a consultation directly with a signing health professional.Conclusions The hospital communication preferences for most people with deafness could be met by increasing deaf awareness training for health professionals, a greater provision of specialized sign language interpreters and of health professionals who can use fluent sign language directly with clients in areas where contact with deaf people is frequent.

Research paper thumbnail of Deaf Community and Genetics

Encyclopaedia of Life Sciences eLS, 2013

Research paper thumbnail of Editorial on Supervision

Journal of Genetic Counseling, 2007

This Editorial provides background information to inform the report from the United Kingdom (UK) ... more This Editorial provides background information to inform the report from the United Kingdom (UK) and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision. We begin by introducing the context of practice as a genetic counselor in the UK and then follow with an overview of events that have happened in our profession that led to the need and creation of the report. Genetic counseling supervision has become instrumental to our practice, training and registration as genetic counselors in the UK.

Research paper thumbnail of Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision

Journal of Genetic Counseling, 2007

The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which r... more The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which represents genetic counsellors and genetic nurses in the United Kingdom (UK) and Eire. The AGNC recognises that genetic counselling supervision is instrumental to the practice, training and registration of genetic counsellors in the UK. The AGNC formed a Supervision Working Group, whose terms of reference were to collate information on supervision and create a list of ‘best practice’ recommendations for its genetic counsellor members. This report delivers the findings from the Supervision Working Group and has been peer reviewed by the AGNC membership in the UK and Eire and ratified by the AGNC Committee. It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations.

Research paper thumbnail of Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness

American Journal of Human Genetics, 1998

Research paper thumbnail of Reply to Michie and Marteau

American Journal of Human Genetics, 1999

Research paper thumbnail of Getting the message across: communication with diverse populations in clinical genetics

Research paper thumbnail of Working with Deaf People - A Handbook for Healthcare Professionals

Research paper thumbnail of Deaf and hearing adults’ attitudes towards genetic testing for deafness

In Van Cleve, J V (ed), Genetics, Disability, and Deafness, 2004

Research paper thumbnail of Parents’ attitudes towards genetic testing and the impact of deafness in the family

In: Stephens D & Jones L (Eds). The Impact of Genetic Hearing Impairment, 2005

Research paper thumbnail of Attitudes of Individuals with Otosclerosis Towards Genetic Technology

In: Stephens D and L Jones (Eds). The Effects of Genetic Hearing Impairment in the Family, 2006

Research paper thumbnail of Genetic Counselling and the d/Deaf Community

In: D Stephens and L Jones (Eds). The Effects of Genetic Hearing Impairment in the Family, 2006

Research paper thumbnail of Attitudes of deaf people and their families towards issues surrounding genetics

In: A Martini, D Stephens and AP Read (Eds). Genes, Hearing and Deafness. From Molecular Biology to Clinical Practice, 2007

Research paper thumbnail of Chapter 5: Timescapes and Genescapes

In: C Gaff and Bylund C (Eds). Family communication about genetics: theory and practice, 2009

Research paper thumbnail of Specialist issues relevant to working with d/Deaf clients

In: A Middleton (Ed) Working with deaf people – a handbook for health professionals, 2010

Research paper thumbnail of General themes to consider when working with deaf and hard of hearing clients

In: A Middleton (Ed) Working with deaf people – a handbook for health professionals, 2010

Research paper thumbnail of Facts and figures about deafness, NF2 and Deafblindness

In: A Middleton (Ed) Working with deaf people – a handbook for health professionals, 2010

Research paper thumbnail of Communicating with clients who are D/deaf or hard of hearing

In: Wiggins J and Middleton A (Eds) (2013) Communication in clinic: getting the message across, 2013

Research paper thumbnail of Middleton et al PM 2018

Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to ... more Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to gather public attitudes toward the donation, access and sharing of DNA information. We describe the method-ological approach used to create an engaging and bespoke survey, suitable for translation into many different languages. We address some of the particular challenges in designing a survey on the subject of genomics. In order to understand the significance of a genomic result, researchers and clinicians alike use external databases containing DNA and medical information from thousands of people. We ask how publics would like their 'anonymous' data to be used (or not to be used) and whether they are concerned by the potential risks of reidentification; the results will be used to inform policy.

Research paper thumbnail of APPLaUD: access for patients and participants to individual level uninterpreted genomic data

Background: There is a growing support for the stance that patients and research participants sho... more Background: There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. Main body: We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data. Individuals have a legal right to access their genomic data in some countries and contexts. Moreover, increasing numbers of participatory research projects, direct-to-consumer genetic testing companies, and now major national sequencing initiatives grant individuals access to their genomic sequence data upon request. Conclusion: Drawing on current practice and regulatory analysis, we outline legal, ethical, and practical guidance for genomic sequencing initiatives seeking to offer interested patients and participants access to their raw genomic data.

Research paper thumbnail of Ethical implications of sharing incidental findings: preliminary findings from an International study

Research paper thumbnail of Being a Genetic Counsellor in the UK: Training, registration and roles

Research paper thumbnail of International views on sharing incidental findings from whole genome research

Research paper thumbnail of Sharing genomic research data: launch of new study

Research paper thumbnail of UK Recognition of International Genetic Counsellor Training and Registration: A Continuing Dialogue

Research paper thumbnail of Working with Deaf people: handbook for health professionals

Research paper thumbnail of A pilot study of attitudes of deaf and hearing parents towards issues surrounding genetic testing for deafness

The American Journal of Human Genetics

Research paper thumbnail of Genetic counselors and Genomic Counseling in the United Kingdom

Research paper thumbnail of Potential research participants support the return of raw sequence data

Journal of medical genetics, Jan 20, 2015

Health-related results that are discovered in the process of genomic research should only be retu... more Health-related results that are discovered in the process of genomic research should only be returned to research participants after being clinically validated and then delivered and followed up within a health service. Returning such results may be difficult for genomic researchers who are limited by resources or unable to access appropriate clinicians. Raw sequence data could, in theory, be returned instead. This might appear nonsensical as, on its own, it is a meaningless code with no clinical value. Yet, as and when direct to consumer genomics services become more widely available (and can be endorsed by independent health professionals and genomic researchers alike), the return of such data could become a realistic proposition. We explore attitudes from <7000 members of the public, genomic researchers, genetic health professionals and non-genetic health professionals and ask participants to suggest what they would do with a raw sequence, if offered it. Results show 62% parti...

Research paper thumbnail of Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

European Journal of Human Genetics, 2015

Genome-wide sequencing in a research setting has the potential to reveal health-related informati... more Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;incidental findings&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; (IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.European Journal of Human Genetics advance online publication, 29 April 2015; doi:10.1038/ejhg.2015.58.

Research paper thumbnail of Ethical, legal and social issues in genomics

Research paper thumbnail of A pilot study of inhaled dry-powder mannitol during cystic fibrosis-related pulmonary exacerbation

The European respiratory journal, 2015

Research paper thumbnail of Genetic counselling in British Sign Language (BSL)

Research paper thumbnail of Sharing genomic research data: launch of an international ethics study

Research paper thumbnail of Genetic counselors and Genomic Counseling in the United Kingdom

Molecular Genetics & Genomic Medicine, 2014

Research paper thumbnail of Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Lancet, Jan 16, 2014

Human genome sequencing has transformed our understanding of genomic variation and its relevance ... more Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how some categories of genomic findings should be shared with individual research participants is currently a topic of international debate, and development of robust analytical workflows to identify and communicate clinically relevant variants is paramount. The Deciphering Developmental Disorders (DDD) study has developed a UK-wide patient recruitment network involving over 180 clinicians across all 24 regional genetics services, and has performed genome-wide microarray and whole exome sequencing on children with undiagnosed developmental disorders and their parents. After data analysis, pertinent genomic variants were returned to individual research participants via their local clinical genetics team. Around 80 000 genomic variants were identified from e...

Research paper thumbnail of Clause 14(4)(9) of embryo bill should be amended or deleted

British Medical Journal, 2008

Research paper thumbnail of Public survey: Closing the evidence gap on public attitudes towards genetic data handling

Dear colleagues, while "data sharing" for biomedical research is currently very high on the agen... more Dear colleagues,

while "data sharing" for biomedical research is currently very high on the agenda of funders and policy makers, there is only little evidence on how people want their genetic and other health data to be used, by whom, and on what terms. A group led by Anna Middleton at Wellcome Trust Sanger Institute, Cambridge, designed a survey to help close this evidence gap. Everyone is invited to participate in this survey, regardless of your discipline and knowledge of this topic. And we would be hugely grateful if you could spread the word. Here is the link to the survey:

https://surveys.genomethics.org/action/Survey/uLNvE0BEStGoEB4hGQqKSg