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Presentation Resource Video

Let’s Talk: Genomic Medicine in Adulthood Webinar

Recording of a webinar run by The North Thames and South East Genomic Medicine Services in June 2022 which explored how Genomic
Medicine can affect a patient in adulthood and discussed a hypothetical case showing how different disciplines may be involved.

Speakers:

Dr Angela Brady; Consultant Clinical Geneticist North West Thames Regional Genetics Service, Honorary Senior Lecturer Imperial College London,  Clinical Education Lead North Thames GMSA

Claire Brooks; Senior Clinical Scientist, North Thames Genomic Laboratory Hub

Dr Anwar Khan; GP Lead, North Thames GMSA

Dharmisha Chauhan; Lead Genomic Pharmacist, North Thames GMSA

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Presentation Resource Video

Let’s Talk: Genomic Medicine in Childhood Webinar

Recording of a webinar run by The North Thames and South East Genomic Medicine Services in June 2022 which explored how Genomic Medicine can affect a patient in childhood and discussed a hypothetical case showing how different disciplines may be involved.

Speakers:

Dr Phil Ostrowski; SpR in Clinical Genetics, SW Thames Centre for Genomics

Dominic Studart; Familial Hypercholesterolaemia (FH) Project Nurse, North Thames GMSA

Nisha Shaunak; Lead Pharmacist South East GMSA

Dr Anwar Khan; GP Lead, North Thames GMSA

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Online Course

Lynch Syndrome online training for pathologists

Lynch syndrome is a cancer predisposition syndrome in which the main concerns are colorectal and endometrial cancer. There is also a risk of other cancers, although less frequently.

The National Lynch Syndrome Project Team (lead by the North Thames & South East GMSA teams), in collaboration with Dr Nicholas West, Associate Professor of Pathology and Honorary Consultant in Gastrointestinal Pathology, University of Leeds, have launched an online training for pathologists which is currently available via the RM Partners West London Cancer Alliance.

This training includes modules focussed on both colorectal cancer and endometrial cancer pathways. It is recommended that participants take the modules and tests specific to the cancer pathway they work within.

The training involves watching two short videos which cover all the different stages of the Lynch syndrome pathway, and then completing the two related online questionnaires to ensure that you have understood correctly the processes and procedures for testing. In addition, the training provides a range of supporting documents to help understand this pathway.

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Online Course

Whole Genome Sequencing: Patient Choice e-learning

Two e-learning courses on Patient Choice have been developed for NHS healthcare professionals who are ordering whole genome sequencing for patients with a suspected rare, inherited condition or cancer.

Developed by NHS East Genomic Laboratory Hub education and training lead Dr Gemma Chandratillake, the courses are now available nationally on Health Education England’s e-Learning for Healthcare (e-LfH) platform and offered in two pathways: one covering testing for a rare, inherited disease, and another covering testing for cancer.

Learners will explore the Patient Choice framework through textual, video and interactive content. On completion of the course, a short assessment will provide an opportunity to demonstrate what they have learned. Learners will then receive a record of feedback and be able to download a certificate of participation.

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Online Course

Management of Familial Hypercholesterolaemia in General Practice eLearning course

Created by the Royal College of General Practitioners (RCGP), this course consists of two modules. Module 1 provides GPs and other Health Care Professionals with information about the causes and consequences of FH, how they can identify those in their practice most likely to have FH, and how these patients and their relatives should be managed. Module 2 covers the genetic causes of FH in more detail, suggests new search algorithms to help in patient identification, and describes novel lipid-lowering agents that are in development.

The primary prevention of cardiovascular disease (CVD) is one of the most important aspects of primary care and is particularly important for those patients with familial hypercholesterolemia (FH). As the prevalence of heterozygous FH in the UK population is approximately 1 in 250, a typical practice with 10,000 patients might have up to 40 patients with a significantly increased risk of premature heart disease.

The condition is significantly underdiagnosed, and the 2017 NICE FH guideline has recommended case finding in primary care using electronic records as an acceptable and highly cost effective method for individual practices to identify patients who so far have not had the benefit of treatment. The NHS 2019 long-term plan has set an ambition to identify 25% of the predicted FH patients in the next 5 years, and achieving this will depend heavily on GP input.

This course was created by the Royal College for General Practitioners (RCGP). A grant was received by North Thames Genomic Laboratory Hub (based at GOSH), South East Genomic Medicine Service Alliance and Health Education England for the production of this resource. Editorial and content decisions were made solely by the RCGP.

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Resource Video

Taking a Family History

This video provides an introduction to taking a family history, which can be used to identify inherited conditions, understand patterns of inheritance, inform clinical decisions such as testing and management, and understand the relationships between family members.

It includes a simulated genetic consultation which demonstrates how to take a family history and how to draw a pedigree.

This video was developed by the North Thames Genomic Laboratory Hub and authored by Dagmar Tapon (Registered Genetic Counsellor, Centre for Fetal Care, Queen Charlotte’s & Chelsea Hospital) in collaboration with Dr. Dahlia Hopmeier (Genomics Clinical Fellow, Great Ormond Street Hospital).

Recorded in March 2021

Categories
Online Course

Lynch Syndrome online training for primary care clinicians

Lynch syndrome is a cancer predisposition syndrome in which the main concerns are colorectal and endometrial cancer. There is also a risk of other cancers, although less frequently.

RM Partners West London Cancer Alliance, in collaboration to Dr Kevin Monahan & Laura Monje-Garcia and as part of the National Lynch Syndrome Project, have launched a short piece of online training for primary care clinicians.

The training will help primary care physicians manage their Lynch syndrome patients as they first present at the GP surgery, and it covers the following:

  • A brief overview of Lynch syndrome
  • Their personalised cancer prevention programme
  • An introduction to the ‘Lynch syndrome quick guide’ and how it can help you identify and manage your patient’s care
  • How to manage their first-degree family members’ care

There is also ‘Lynch syndrome quick guide for primary care clinicians’ document available.

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Presentation Resource

Prenatal Exome Sequencing for midwives

A series of slides summarising use of prenatal exome sequencing for midwifery.

You can view further presentations in this series by following the links below;

Genomics for midwives

Non-invasive Prenatal Diagnosis (NIPD) for midwives

Non-invasive Prenatal Testing (NIPT) for midwives

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Presentation Resource

Non-invasive Prenatal Testing (NIPT) for midwives

A series of slides summarising use of NIPT for midwifery.

You can view further presentations in this series by following the links below;

Genomics for midwives

Non-invasive Prenatal Diagnosis (NIPD) for midwives

Prenatal Exome Sequencing for midwives

Categories
Presentation Resource

Non-invasive Prenatal Diagnosis (NIPD) for midwives

A series of slides summarising use of NIPD for midwifery.

You can view further presentations in this series by following the links below;

Genomics for midwives

Non-invasive Prenatal Testing (NIPT) for midwives

Prenatal Exome Sequencing for midwives