Welcome to week 1

Welcome, and Thanks so much for joining us today. My name’s Dr. Catherine Millington-Sanders, and I’m a GP based in London and I’ve been practicing for over 20 years. We’re delighted to welcome you to the Genomics Scenarios in Primary Care course, which will unfold over the next three weeks. My experience of genomics is limited, which makes conversations with patients challenging. So I’m really looking forward to learning more on this course with our expert GPs. This week, we will be discussing two common scenarios that we all deal with regularly in primary care. That’s family history of cancer and the high serum cholesterol result. I’m really pleased to introduce two GPs who have an expertise in genomics, relevant to primary care.

And that’s Dr. Jude Hayward and Dr. Imran Rafi. Thank you, Catherine. My name is Dr. Jude Hayward. I’m a GP in Bradford and I’ve worked as a GP SI or GP with special interest in genetics now for over 16 years in Yorkshire. So Catherine, family history is a common way for genomics issues to present to primary care. We will all be able to bring to mind examples of what patients say. Everyone in my family gets cancer. I’m almost at the age that my father got bowel cancer. Can I have a check? Can I have a gene test to see if I’m going to get cancer like my mother and grandmother did?

In this week’s module, we’re going to explore how we can assess and use family history to give patients their personal risk and to empower them by giving them information they need to self care in regarding options available to them. We will follow a patient journey from primary care, through secondary care, to clerical genetics. We will explore how and when genomic testing plays a role, illustrating key genomics principles relevant to us in primary care. And finally, consider wider clinical management issues, such as contraception, HRT, risk reducing medication and management of family members. Thank you, Jude. That’s really interesting. We look forward to hearing more helpful information around cancer.

Can you provide another common genetic condition that has repercussions for individuals and families? Yes, indeed. My colleague, Dr. Imran Rafi, will introduce another common scenario in primary care that of high cholesterol and familial hypercholesterolemia Hi, Catherine. Familial hypercholesterolemia, or FH, is a good example of a genetic condition that helps us to understand basic genetic concepts. Early detection of this inherited condition is really important in terms of identifying those who may be at risk and need our support in populations. NICE guidance exists, which helps us to identify, diagnose and treat our patients. And in clinical practice, we rely on our generalist skills, including family history skills and clinical examination to make a diagnosis.

Health formation and comorbidity are important facets of management. And we rely on our specialist services colleagues to help us with genetic testing and also cascade testing, which is important in terms of identifying relatives who may be at risk. Thank you. That’s really helpful, Imran and Jude. Well, I for one, will look forward to hearing more on this. And please let us know how you get on by participating in the discussion sections. And we hope you’re really enjoying this course.