Anna Middleton | The Wellcome Trust Sanger Institute (original) (raw)

Peer reviewed publications by Anna Middleton

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.

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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.

European journal of human genetics : EJHG, 2014

Journal of Community Genetics, 2014

Social science research, 2014

How can a researcher engage a participant in a survey, when the subject matter may be perceived a... more How can a researcher engage a participant in a survey, when the subject matter may be perceived as 'challenging' or even be totally unfamiliar to the participant? The Genomethics study addressed this via the creation and delivery of a novel online questionnaire containing 10 integrated films. The films documented various ethical dilemmas raised by genomic technologies and the survey ascertained attitudes towards these. Participants were recruited into the research using social media, traditional media and email invitation. The film-survey strategy was successful: 11,336 initial hits on the survey website led to 6944 completed surveys. Participants included from those who knew nothing of the subject matter through to experts in the field of genomics (61% compliance rate), 72% of participants answered every single question. This paper summarises the survey design process and validation methods applied. The recruitment strategy and results from the survey are presented elsewhere.

British Medical Journal, 2014

Around the world, genome sequencing is moving from research into the clinic, and in the UK plans ... more Around the world, genome sequencing is moving from research into the clinic, and in the UK plans to sequence the genomes of 100 000 NHS patients are well underway. A clear policy on how to conduct genomic testing is therefore both essential and urgent, argue Caroline Wright and colleagues Caroline F Wright senior scientific manager

American Journal of Medical Genetics Part 1, 2013

Journal of Genetic Counseling, 2012

This paper provides a commentary on 'Family Experience of Personal Genomics' ). An overview is of... more This paper provides a commentary on 'Family Experience of Personal Genomics' ). An overview is offered on the communication literature available to help support individuals and families to communicate about genetic information. Despite there being a wealth of evidence, built on years of genetic counseling practice, this does not appear to have been translated clearly to the Direct to Consumer (DTC) testing market. In many countries it is possible to order a DTC genetic test without the involvement of any health professional; there has been heated debate about whether this is appropriate or not. Much of the focus surrounding this has been on whether it is necessary to have a health professional available to offer their clinical knowledge and help with interpreting the DTC genetic test data. What has been missed from this debate is the importance of enabling customers of DTC testing services access to the abundance of information about how to communicate their genetic risks to others, including immediate family. Family communication about health and indeed genetics can be fraught with difficulty. Genetic health professionals, specifically genetic counselors, have particular expertise in family communication about genetics. Such information could be incredibly useful to kinships as they grapple with knowing how to communicate their genomic information with relatives.

British Medical Journal, 2010

For the full versions of these articles see bmj.com published a report on the experiences of 866 ... more For the full versions of these articles see bmj.com published a report on the experiences of 866 deaf people across the UK and their views of using various health services. In its survey it found that 42% of respondents who had visited hospital had found communication with NHS staff difficult; this figure increased to 66% for people who used British sign language (BSL). Most worrying was that a third PRACTICE POINTER

British Medical Journal, 2008

Sign Language Studies, 2010

Sign Language Studies, 2010

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

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.

Encyclopaedia of Life Sciences eLS, 2013

The Deaf community consists of a group of like minded people sharing a common sign language and c... more The Deaf community consists of a group of like minded people sharing a common sign language and culture. This community has a positive attitude toward being deaf. Typically, deafness is considered a strong part of linguistic and cultural identity and Deaf individuals do not wish to have treatments or a cure. Deaf people have concerns that a hearing society, with little knowledge or experience of their rich culture and language, would encourage the use of pre-implantation genetic diagnosis and prenatal genetic testing for deafness with the ultimate aim of having hearing children. They feel strongly that deafness is a source of human variation that does not warrant the use of genetic technology in this way. Deaf (written with an uppercase 'D') refers to people who belong to the Deaf community. Deaf people use sign language (e.g. British Sign Language, American Sign Language, Auslan, etc.) as their first or preferred language. They also have a positive identity attached to being Deaf. People who consider themselves deaf (written with a lowercase 'd') or hard of hearing tend to use speech as their preferred form of communication, and may experience being deaf as a medical disability that needs to be treated. These groups often have very differing attitudes towards the use of genetic technology.

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.

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.

American Journal of Human Genetics, 1998

Recent advances within molecular genetics to identify the genes for deafness mean that it is now ... more Recent advances within molecular genetics to identify the genes for deafness mean that it is now possible for genetic-counseling services to offer genetic testing for deafness to certain families. The purpose of this study is to document the attitudes of deaf adults toward genetic testing for deafness. A structured, self-completion questionnaire was given to delegates at an international conference on the "Deaf Nation," held at the University of Central Lancashire in 1997. The conference was aimed at well-educated people, with an emphasis on Deaf culture issues. Eighty-seven deaf delegates from the United Kingdom returned completed questionnaires. The questionnaire had been designed to quantitatively assess attitudes toward genetics, interest in prenatal diagnosis (PND) for deafness, and preference for having deaf or hearing children. The results from this study provide evidence of a predominantly negative attitude toward genetics and its impact on deaf people, in a population for whom genetic-counseling services are relevant. Fifty-five percent of the sample thought that genetic testing would do more harm than good, 46% thought that its potential use devalued deaf people, and 49% were concerned about new discoveries in genetics. When asked about testing in pregnancy, 16% of participants said that they would consider having PND, and, of these, 29% said that they would prefer to have deaf children. Geneticists need to appreciate that some deaf persons may prefer to have deaf children and may consider the use of genetic technology to achieve this. Any geneticcounseling service set up for families with deafness can only be effective and appropriate if clinicians and counselors take into consideration the beliefs and values of the deaf community at large.

American Journal of Human Genetics, 1999

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.

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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.

European journal of human genetics : EJHG, 2014

Journal of Community Genetics, 2014

Social science research, 2014

How can a researcher engage a participant in a survey, when the subject matter may be perceived a... more How can a researcher engage a participant in a survey, when the subject matter may be perceived as 'challenging' or even be totally unfamiliar to the participant? The Genomethics study addressed this via the creation and delivery of a novel online questionnaire containing 10 integrated films. The films documented various ethical dilemmas raised by genomic technologies and the survey ascertained attitudes towards these. Participants were recruited into the research using social media, traditional media and email invitation. The film-survey strategy was successful: 11,336 initial hits on the survey website led to 6944 completed surveys. Participants included from those who knew nothing of the subject matter through to experts in the field of genomics (61% compliance rate), 72% of participants answered every single question. This paper summarises the survey design process and validation methods applied. The recruitment strategy and results from the survey are presented elsewhere.

British Medical Journal, 2014

Around the world, genome sequencing is moving from research into the clinic, and in the UK plans ... more Around the world, genome sequencing is moving from research into the clinic, and in the UK plans to sequence the genomes of 100 000 NHS patients are well underway. A clear policy on how to conduct genomic testing is therefore both essential and urgent, argue Caroline Wright and colleagues Caroline F Wright senior scientific manager

American Journal of Medical Genetics Part 1, 2013

Journal of Genetic Counseling, 2012

This paper provides a commentary on 'Family Experience of Personal Genomics' ). An overview is of... more This paper provides a commentary on 'Family Experience of Personal Genomics' ). An overview is offered on the communication literature available to help support individuals and families to communicate about genetic information. Despite there being a wealth of evidence, built on years of genetic counseling practice, this does not appear to have been translated clearly to the Direct to Consumer (DTC) testing market. In many countries it is possible to order a DTC genetic test without the involvement of any health professional; there has been heated debate about whether this is appropriate or not. Much of the focus surrounding this has been on whether it is necessary to have a health professional available to offer their clinical knowledge and help with interpreting the DTC genetic test data. What has been missed from this debate is the importance of enabling customers of DTC testing services access to the abundance of information about how to communicate their genetic risks to others, including immediate family. Family communication about health and indeed genetics can be fraught with difficulty. Genetic health professionals, specifically genetic counselors, have particular expertise in family communication about genetics. Such information could be incredibly useful to kinships as they grapple with knowing how to communicate their genomic information with relatives.

British Medical Journal, 2010

For the full versions of these articles see bmj.com published a report on the experiences of 866 ... more For the full versions of these articles see bmj.com published a report on the experiences of 866 deaf people across the UK and their views of using various health services. In its survey it found that 42% of respondents who had visited hospital had found communication with NHS staff difficult; this figure increased to 66% for people who used British sign language (BSL). Most worrying was that a third PRACTICE POINTER

British Medical Journal, 2008

Sign Language Studies, 2010

Sign Language Studies, 2010

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

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.

Encyclopaedia of Life Sciences eLS, 2013

The Deaf community consists of a group of like minded people sharing a common sign language and c... more The Deaf community consists of a group of like minded people sharing a common sign language and culture. This community has a positive attitude toward being deaf. Typically, deafness is considered a strong part of linguistic and cultural identity and Deaf individuals do not wish to have treatments or a cure. Deaf people have concerns that a hearing society, with little knowledge or experience of their rich culture and language, would encourage the use of pre-implantation genetic diagnosis and prenatal genetic testing for deafness with the ultimate aim of having hearing children. They feel strongly that deafness is a source of human variation that does not warrant the use of genetic technology in this way. Deaf (written with an uppercase 'D') refers to people who belong to the Deaf community. Deaf people use sign language (e.g. British Sign Language, American Sign Language, Auslan, etc.) as their first or preferred language. They also have a positive identity attached to being Deaf. People who consider themselves deaf (written with a lowercase 'd') or hard of hearing tend to use speech as their preferred form of communication, and may experience being deaf as a medical disability that needs to be treated. These groups often have very differing attitudes towards the use of genetic technology.

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.

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.

American Journal of Human Genetics, 1998

Recent advances within molecular genetics to identify the genes for deafness mean that it is now ... more Recent advances within molecular genetics to identify the genes for deafness mean that it is now possible for genetic-counseling services to offer genetic testing for deafness to certain families. The purpose of this study is to document the attitudes of deaf adults toward genetic testing for deafness. A structured, self-completion questionnaire was given to delegates at an international conference on the "Deaf Nation," held at the University of Central Lancashire in 1997. The conference was aimed at well-educated people, with an emphasis on Deaf culture issues. Eighty-seven deaf delegates from the United Kingdom returned completed questionnaires. The questionnaire had been designed to quantitatively assess attitudes toward genetics, interest in prenatal diagnosis (PND) for deafness, and preference for having deaf or hearing children. The results from this study provide evidence of a predominantly negative attitude toward genetics and its impact on deaf people, in a population for whom genetic-counseling services are relevant. Fifty-five percent of the sample thought that genetic testing would do more harm than good, 46% thought that its potential use devalued deaf people, and 49% were concerned about new discoveries in genetics. When asked about testing in pregnancy, 16% of participants said that they would consider having PND, and, of these, 29% said that they would prefer to have deaf children. Geneticists need to appreciate that some deaf persons may prefer to have deaf children and may consider the use of genetic technology to achieve this. Any geneticcounseling service set up for families with deafness can only be effective and appropriate if clinicians and counselors take into consideration the beliefs and values of the deaf community at large.

American Journal of Human Genetics, 1999

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

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

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

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

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

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

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

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

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

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

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.

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.

The American Journal of Human Genetics

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...

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.

The European respiratory journal, 2015

Pulmonary exacerbation treatment aims to eradicate increased respiratory symptoms and recover acu... more Pulmonary exacerbation treatment aims to eradicate increased respiratory symptoms and recover acute loss in lung function. Current treatment strategies remain suboptimal, with conventional intravenous antibiotics and intensive physiotherapy failing to achieve this in 25% of patients [1]. Despite this worrying statistic, optimising recovery from acute pulmonary exacerbations has not been a focus of recent cystic fibrosis (CF) research efforts. There is a lack of adjunct evidence-based therapies for use in this setting [2] and strategies to optimise airway clearance with physiotherapy have been largely overlooked, despite common use in the outpatient setting . Inhaled dry-powder mannitol (IDPM), a mucoactive agent, improves mucociliary clearance [5], mucus rheology, and hydration and surface properties of mucus . In the CF outpatient setting, IDPM treatment improves lung function, both in the short (.2 weeks) and long (.12 months) term . Its utility in in-patient pulmonary exacerbation care is unclear. In this pilot study, we investigated feasibility and safety of IDPM as an adjunct therapy to standard in-patient hospital care for children with pulmonary exacerbation. Efficacy was also explored using both conventional respiratory function outcomes and additional sensitive measures of peripheral airway function.

Molecular Genetics & Genomic Medicine, 2014

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...

British Medical Journal, 2008

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