Evaluating the delivery of whole exome sequencing for patients with muscle diseases in Latin America. Learning from collaborative experiences-Lat SEQ+
Lead Research Organisation:
Newcastle University
Department Name: Population Health Sciences Institute
Abstract
This project is trying to find out about the experiences of patients and healthcare professionals in 15 Latin American countries who are part of a study (Latin SEQ) that is offering a type of genetic testing called whole exome sequencing (WES) to diagnose inherited muscle diseases. This type of test can also identify if a patient has other genetic conditions or risks of disease that have nothing to do with their muscle disease symptoms (because WES does not just look at muscle disease genes). The test may diagnose conditions that patients and their doctors do not expect and they are not prepared for. WES can also come up with uncertain answers that are difficult to interpret.
There are many potential benefits of having a genetic diagnosis for muscle diseases. A diagnosis can help to tailor treatment or supportive care, it can help families to understand why their relative has a disease and answer questions that they may have asked for a long time, it can give other family members genetic information that they might use for their medical care or prenatal options for their future family.
There are also some downsides and sometimes patients' can struggle to come to terms with a genetic diagnosis for many reasons. Parents may feel guilty once they know their child has inherited a condition or disease from them. A genetic diagnosis can cause family upset when family members, who may be at risk of the genetic condition, do not want to know. In some cultures, people may feel stigmatised by the information. It can sometimes affect financial arrangements like insurances and some career opportunities. These are issues, which a genetic counsellor would usually discuss with patients before testing.
In many of the 15 LA countries, there is no genetic counselling available and healthcare professionals in the muscle disease service will inform patients about WES and the possible genetics of their disease and/or any unexpected findings. In addition, in LA countries access to supportive care services may vary. Some tailored therapies may not be available even when a genetic diagnosis is found. Prenatal testing may not be available because of legal, religious or cultural restrictions.
In the UK, although we have genetic counselling, WES is also beginning to be offered to patients by doctors who are not geneticists. We can therefore learn from the experiences of healthcare professionals and patients in Latin America who do not have genetic counselling services. The findings of this study, when shared with the participating centres, can also help to support the development of genetic services in the Latin American countries.
The study aims to evaluate patients', families' and HCP's experiences of:
1) Receiving and giving a genetic diagnosis,
2) How and if there are changes to patient care following WES
3)Pre-natal testing opportunities and uptake
4) Communicating genetic information within families
5) Receiving and giving unexpected findings
6) Dealing with variants of uncertain significance
7)Cultural contexts.
The study objectives are to develop educational input and resources, highlight areas of good practice as measured against UK genetic counselling standards, share findings with LA partners to grow their genetics services and improve patient outcomes, share findings with Health Education England and Genome England to inform UK service development. The project will generate new knowledge about delivering effective genetic counselling to improve patient outcomes in Latin America and in the UK.
There are many potential benefits of having a genetic diagnosis for muscle diseases. A diagnosis can help to tailor treatment or supportive care, it can help families to understand why their relative has a disease and answer questions that they may have asked for a long time, it can give other family members genetic information that they might use for their medical care or prenatal options for their future family.
There are also some downsides and sometimes patients' can struggle to come to terms with a genetic diagnosis for many reasons. Parents may feel guilty once they know their child has inherited a condition or disease from them. A genetic diagnosis can cause family upset when family members, who may be at risk of the genetic condition, do not want to know. In some cultures, people may feel stigmatised by the information. It can sometimes affect financial arrangements like insurances and some career opportunities. These are issues, which a genetic counsellor would usually discuss with patients before testing.
In many of the 15 LA countries, there is no genetic counselling available and healthcare professionals in the muscle disease service will inform patients about WES and the possible genetics of their disease and/or any unexpected findings. In addition, in LA countries access to supportive care services may vary. Some tailored therapies may not be available even when a genetic diagnosis is found. Prenatal testing may not be available because of legal, religious or cultural restrictions.
In the UK, although we have genetic counselling, WES is also beginning to be offered to patients by doctors who are not geneticists. We can therefore learn from the experiences of healthcare professionals and patients in Latin America who do not have genetic counselling services. The findings of this study, when shared with the participating centres, can also help to support the development of genetic services in the Latin American countries.
The study aims to evaluate patients', families' and HCP's experiences of:
1) Receiving and giving a genetic diagnosis,
2) How and if there are changes to patient care following WES
3)Pre-natal testing opportunities and uptake
4) Communicating genetic information within families
5) Receiving and giving unexpected findings
6) Dealing with variants of uncertain significance
7)Cultural contexts.
The study objectives are to develop educational input and resources, highlight areas of good practice as measured against UK genetic counselling standards, share findings with LA partners to grow their genetics services and improve patient outcomes, share findings with Health Education England and Genome England to inform UK service development. The project will generate new knowledge about delivering effective genetic counselling to improve patient outcomes in Latin America and in the UK.
Technical Summary
This mixed methods study aims to critically explore how Genetic Counselling (GC) is delivered in contexts without dedicated GC resource. UK genomic medicine is expanding beyond capacities of clinical genetics services. New models of care are needed to integrate genomics into mainstream medicine to benefit patients with undiagnosed genetic conditions. Interpreting genomic test results is challenging; genetic testing can cause psycho-social and relationship harms to patients and families. GC addresses potential harms helping patients to reach an informed contextually specific decision that is right for them. Mainstream clinicians need support to deliver genomics without causing inadvertent patient harm. The Latin SEQ study (LSS) is providing genomic testing to 1000 patients with neuromuscular diseases across 35 neuromuscular centres in 15 Latin American (LA) countries, offering clinicians and patients unprecedented access to genomics. GC is not available in most of LA. LSS is a real-world opportunity to evaluate benefits and challenges of delivering genomics without GC or genetics services support which will help UK in mainstreaming genomics.
The study objectives are to:
1 Critically explore experiences (clinicians' patients' families) of giving and receiving a genetic diagnosis
2 Understand how/if patients' care changes depending on testing outcome (explanatory variant, no variant, variant of uncertain significance found)
3 Identify, describe and understand how genetic information is communicated within families
4 Understand cultural influences on genomic services in LA
Mixed methods include Surveys (patients and clinicians), qualitative interviews (patients, families, clinicians) and observation (multi-disciplinary team meetings). Outputs will: develop educational input and resource; share findings with partners to improve patient outcomes; highlight and share good practice via Health Education England/Genomics England to inform UK service development.
The study objectives are to:
1 Critically explore experiences (clinicians' patients' families) of giving and receiving a genetic diagnosis
2 Understand how/if patients' care changes depending on testing outcome (explanatory variant, no variant, variant of uncertain significance found)
3 Identify, describe and understand how genetic information is communicated within families
4 Understand cultural influences on genomic services in LA
Mixed methods include Surveys (patients and clinicians), qualitative interviews (patients, families, clinicians) and observation (multi-disciplinary team meetings). Outputs will: develop educational input and resource; share findings with partners to improve patient outcomes; highlight and share good practice via Health Education England/Genomics England to inform UK service development.
