These resources have been reviewed by a panel of consultants and trainees.
3.2.0 Fetal Genomics – What does an obstetrician need to know?
From the 2020 RCOG Annual Professional Development Conference:
Citing clinical examples, Dr Kelly Cohen, Clinical Director for Women’s Services and Consultant in Obstetrics and Fetal Medicine at Leeds Teaching Hospital NHS Trust explains how knowledge of Transgenerational Genomics helps her deliver a holistic approach to perinatal care.
Further information is available in:
3.2.1 Rare disease diagnosis: from GP to specialist
This short video from HEE exemplifies the need for a diagnosis in suspected genetic disease. It rehearses how the 100,000 genomes project will help (and already has) in identifying causes in order to provide more certainty about prognosis and appropriate care.
3.2.2 The power of a genetic diagnosis
This short video from HEE shows how the difficulties faced by families who have a child with behavioural and learning problems can be aided by a genetic diagnosis made with the use of whole exome sequencing.
3.2.3 Over-interpreting genomic variants
The finding of a genetic variant does not necessarily mean it is responsible for the condition under investigation. Over-interpretation can lead to misdiagnosis.
3.2.4 Gene directed therapies
A brief introduction as to how a correct genetic diagnosis can lead to appropriate gene directed therapy being implemented with a positive outcome.
3.2.5 Role of genetic counsellors
A short introduction by HEE to the vital role that specialist genetic counsellors play in the management of patients who need genetic testing and their role in conveying diagnostic information and support with understanding their genetic condition.
3.2.6 Heel-prick testing and whole genome sequencing (WGS)
Whole genome sequencing is cheaper and faster than ever, but interpreting the results is difficult, time-consuming, and expensive, and may be fraught with ethical dilemmas.
3.2.7 Should we sequence babies?
Whole genome sequencing of newborns for the diagnosis of genetic disorders is now technologically possible and is already being used in selected cases where a rare disorder is suspected in a seriously ill baby. But should it be used in all newborn babies?
3.2.8 Newborn Screening – time to expand the list?
Genetic Alliance UK’s patient charter of newborn screening for rare genetic conditions
3.2.9 Non-Invasive Prenatal Testing (NIPT)
This free Future Learn course for healthcare professionals from St George’s provides a broad insight into the key issues surrounding NIPT leading on from Dennis Lo’s introduction (2.7).
3.2.10 What is NIPD?
How is NIPD different from NIPT? A short note explaining the difference and its use.