Our Work

We work on a variety of issues that families and individuals with genetic conditions face. We aim to provide information, support families and influence the services needed by these patients. We also work to add patient voice into debates that matter to our community. Our work falls into different categories:  reproductive techniques, diagnosis, medical research, healthcare and delivery, access to treatments and living and education.

 

All / England / EU / Parliamentary / Policy / Research / Scotland / UK / Wales

Mitochondrial donation regulation consultation

Policy

Mitochondrial donation regulation consultation

Consultation on non invasive prenatal testing

Policy

Consultation on non invasive prenatal testing

Research on non-invasive prenatal testing

Research

Research on non-invasive prenatal testing

Joint statement on the IVD medical devices regulation

Parliamentary

Regulation of in vitro diagnostic (IVD) medical devices is essential. We are concerned however, that…

Cancer patients’ views on genome sequencing

Research

Cancer patients’ views on genome sequencing

The Genomics Conversation

Research

The Genomics Conversation

My Condition, My DNA

Policy

My Condition, My DNA

HRA UK policy framework for health and social care research

Policy

HRA UK policy framework for health and social care research

Public perspectives on neuro-enhancement

Research

Genome Editing: What does it mean for patients?

Policy

 Genome Editing: What does it mean for patients?

Use of animals in medical research

Research

Use of animals in medical research

Changes to NHS England’s Clinical Reference Groups

Policy

Changes to NHS England’s Clinical Reference Groups

New Welsh antimicrobial resistance delivery plan

Policy

New Welsh antimicrobial resistance delivery plan

Setting the mandate to NHS England for 2016 to 2017

Policy

Setting the mandate to NHS England for 2016 to 2017

HTA codes of practice consultation

Policy

The Human Tissue Authority (HTA) regulates the removal, storage and use of human organs and tissue. …

Our response to the Maternity Review

Policy

Our response to the Maternity Review

Children and young people’s continuing care framework

Policy

The department of health has been consulting on the draft national framework for children and young …

Refreshing Public Health Outcomes Framework

Policy

Refreshing Public Health Outcomes Framework

Joint response to the IGARD draft terms of reference

Policy

Joint response to the IGARD draft terms of reference

The value of secondary use of data in Northern Ireland

Parliamentary

The value of secondary use of data in Northern Ireland

Models of consent for NCARDRS

Policy

Models of consent for NCARDRS

Draft service specification for genetic services in Wales

Policy

The Welsh health specialised services committee (WHSSC) has been consulting on its draft service spe…

The EU Referendum

Policy

The EU Referendum

Proposals to display medicines pricing on packaging

Policy

Proposals to display medicines pricing on packaging

Upcoming changes to the Cancer Drugs Fund

Policy

Upcoming changes to the Cancer Drugs Fund

Accelerated Access Review’s Interim Report

Policy

Accelerated Access Review’s Interim Report

Access to Medical Treatments (Innovation) Bill

Parliamentary

Access to Medical Treatments (Innovation) Bill

Response to the Accelerated Access Review

Policy

The Accelerated Access Review (AAR) is being undertaken by the Department for Life Sciences, with th…

Access to medicines for rare diseases in Scotland

Policy

On Wednesday 23 March 2016, we launched our new Patient Charter 'Patient perspectives and priorities…

NHS England’s commissioning of medicines for rare diseases

Policy

NHS England’s commissioning of medicines for rare diseases

NICE’s evaluation of highly specialised technologies

Policy

NICE’s evaluation of highly specialised technologies

New method of prioritisation for specialised services

Policy

New method of prioritisation for specialised services

Obstacles to patients gaining access to advanced therapies

Policy

Obstacles to patients gaining access to advanced therapies

Developing genetics training for primary care practitioners

EU

Developing genetics training for primary care practitioners

Helping patients create their own support groups

UK

Helping patients create their own support groups

Resources about how medicines are developed (EUPATI)

Research

Resources about how medicines are developed (EUPATI)

Treatment of Adrenal Insufficiency in Neonates and Infants (TAIN)

Research

Babies and children with adrenal insufficiency (in most cases they have the genetic condition congen…

Hidden Costs of Rare Disease Project

Research

Hidden Costs of Rare Disease Project

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