Stakeholder views of rapid genomic sequencing
Research type
Research Study
Full title
Rapid genomic sequencing: A qualitative study to explore the views and experiences of families and health professionals
IRAS ID
244076
Contact name
Emma Pendleton
Contact email
Sponsor organisation
Great Ormond Street Hospital NHS Foundation Trust
Duration of Study in the UK
2 years, 3 months, 29 days
Research summary
Research Summary
New large-scale sequencing approaches such as whole-genome sequencing (WGS), that can examine the entire genome, and whole exome sequencing (WES), which targets the 1% of the genome that encodes proteins, are increasingly being offered to obtain a genetic diagnosis for patients suspected of having a rare genetic disorder. A genetic diagnosis can be hugely beneficial as patients get the right treatment and support and accurate genetic counselling. Testing can take many months, however, the process can be refined to provide results quickly in settings where rapid diagnosis is crucial. Two ongoing research studies at GOSH are examining the use of rapid WGS and WES; 1. Rapid Paediatric Sequencing (RaPS) where WGS has been offered to select critically ill children with a high probability of a rare genetic condition and 2. Rapid prenatal diagnosis where WES has been offered to parents during pregnancy when ultrasound detects a fetal anomaly highly likely to have a genetic basis.
While genomic sequencing has the potential to be hugely beneficial to families, there are also practical and ethical challenges that need to be addressed, including; how tests are offered, what results are reported, implications for other family members, management of genetic privacy and data protection. For rapid genomic sequencing in acute settings, additional considerations are also needed, such as how best to avoid information overload and yet support informed consent during a distressing and time-pressured period. In this qualitative study the views and experiences of parents who have been offered rapid genomic sequencing and relevant health professionals will be gathered in face-to-face or telephone interviews using semi-structured question guides. Interviews will be audio-recorded and transcribed verbatim. Identifying information will be removed and each participant will be assigned a pseudonym. Data will be analysed thematically using codes that are gradually refined to identify emergent themes.
Summary of Results
New approaches to testing for genetic conditions, are being used more and more widely to obtain a genetic diagnosis for patients suspected of having a rare genetic disorder. These tests include genome sequencing and exome sequencing, which allow scientists to look in detail at our genome and our exome. The genome is the body’s ‘instruction manual’. It contains the information needed to create, run and repair the human body. The section of the genome that we call the exome makes up just 1-2% of the genome. The exome contains the instructions for proteins, which are the building blocks and tools that make up and run our bodies. A genetic diagnosis can be hugely beneficial as it helps patients get the right treatment and support and allows for accurate genetic counselling. However, there are also practical and ethical challenges that need to be addressed when offering these new tests, including; how to support informed consent, what results are reported, implications for other family members, management of genetic privacy and data protection.
Genome and exome sequencing tests can often take several weeks or months, however, the process can be refined to provide results quickly in acute care settings where rapid diagnosis is crucial, such as when a child is critically ill and in intensive care or during pregnancy. In this study we used interviews with parents and professionals to explore their views and experiences of two rapid sequencing tests that were being offered as part of research studies for diagnosing genetic conditions in acute care settings.
1. Rapid Paediatric Sequencing (RaPS) where genome sequencing was offered to critically ill babies and children with a high probability of a rare genetic condition.
We conducted interviews with 11 parents of children offered genome sequencing and 19 professionals from a range of training backgrounds. We found that parents and professionals were positive about rapid genome sequencing, describing clinical benefits for the child. The emotional benefits for described by parents included relief, reassurance and the opportunity for greater certainty. We found that parental stress surrounding their child's illness can make decisions about testing more complicated and careful pre-test counselling is needed to support decision making. We also found that many parents would also benefit from additional support while waiting for results. The importance of professionals from different backgrounds working across disciplines as a team was thought to be important to support rapid testing. Further education and training is needed for professionals who don’t have a background in genetics.
2. Rapid prenatal diagnosis where exome sequencing has been offered to parents during pregnancy when ultrasound detects a baby has a condition that is highly likely to have a genetic basis.
Interviews were conducted with 11 parents and 20 health professionals from fetal medicine and clinical genetics. Parents and professionals were largely positive about prenatal exome sequencing, emphasising the clinical benefits of having a rapid diagnosis in pregnancy to inform management of the pregnancy. Emotional benefits included having more information, being better prepared and feelings of relief from a negative result. Concerns included parental anxiety related to the timing of the results or uncertain findings and a need for guidelines for who should be offered the test and what results should be reported. The need for expert counselling to enable parents to make informed decisions during a stressful time was highlighted. To achieve this, professionals need further education and training, and fetal medicine and genetics services must work closely together to ensure parents receive the right information and support.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
18/LO/0984
Date of REC Opinion
28 Jun 2018
REC opinion
Favourable Opinion