Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Why is genetics relevant to me? Genetics and Genomics for Nurses Working in General Practice

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Aims of this session To give General Practice Nurses an overview of how Genetics and Genomics fits into their Practice To describe the underpinning core genetic concepts To demonstrate the inheritance patterns of some common conditions seen in primary care To discuss referral pathways

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Why do I need to think about Genetics? The Practice Nurses Role Supporting patients who are anxious about the inheritable nature of their condition Information giving -modes of inheritance, genetic referral process Awareness and referral on to medical staff Genetics in common long term conditions

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre 1 in 10 patients seen in primary care has a disorder with a genetic component Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre Hopkinson, I. Presentation at Reality not hype: the new genetics in primary care, 2004.

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ALERT Know the clues that might indicate a genetic condition ASK Collect appropriate family history information ACT Act on the information you have Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ALERT Know the clues that might indicate a genetic condition Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre General clues Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre Multiple closely related people with the same condition Disorders which occur at a younger age than usual (e.g. colon cancer, breast cancer, dementia) Sudden cardiac deaths in people who seemed healthy Three or more pregnancy losses Medical problems in children of parents related by blood Congenital anomalies, dysmorphic features and developmental delay

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Making sense of the science……..

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre How it works –e.g.Cystic Fibrosis Normal-CTFR gene codes for CFP embedded in cell membrane. Involved in transport of salt and H 2 O in glands that produce mucous. e.g. Lungs, nose, pancreas or sweat Altered CTFR gene. CFP not functioning leading to reduced transportation of salt and water and sticky mucous accumulation H2O & NaCl Sticky mucous H2O & NaCl Cell membrane

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Common Conditions seen in Primary Care Familial Hypercholesteroleamia – Autosomal Dominant Cystic Fibrosis –Autosomal Recessive Breast Cancer –Sporadic or can be single gene BRCA1/2 Autosomal Dominant Heart Disease-Multifactorial Diabetes-Multifactorial or MODY Autosomal Dominant

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Modes of Inheritance Chromosomal conditions Mitochondrial conditions

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Autosomal Dominant

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Autosomal Recessive

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre X linked Recessive

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ASK Collect appropriate family history information Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Collecting appropriate information Establish biological relationships in the family Clarify the medical conditions that people in the family have Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre General questions to gain a quick overview of a genetic family history Do you have any concerns about diseases or conditions that seem to run on either your or your partner’s side of the family? Does anyone have a major medical, physical or mental health problem? Has anyone ever needed treatment in hospital?

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre What information should you collect? Information depends on the context and reason for collecting it: Establish biological relationships Clarify the medical conditions that people have 3 generations For each person: Full name Date of birth (or age) Date of death (or age died) Medical information (age at diagnosis) Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Drawing a family tree Male Female Person whose sex is unknown Pregnancy P Marriage / Partnership (horizontal line) Parents and Siblings Offspring (vertical line) Affected Male & Female Carrier Male & Female Partnership that has ended / X weeks Miscarriage

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre ACT Act on the information you have Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Where to find information:

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Reassure – Knowledge of the condition – Local/national referral guidelines Refer – To the GP or clinical genetics service Seek further advice – Trusted sources of information – Clinical Genetics Department On-Call Service Genetics and genomics for healthcare © 2012 NHS National Genetics Education and Development Centre

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Making a referral

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre Consider the following scenarios how would you respond? A mother is seeing you with her 10 year old son for lifestyle advice as he has a high BMI. The mother has read in the paper that there is a company that tests DNA for obesity genes and brings the article to ask for advice on whether to get her Son tested. A woman attending for cervical smear is worried because her Aunt has been diagnosed with breast cancer and her Grandmother also had breast cancer, she wants to know if she could have a mammogram, she is aged 42.

Genetics and genomics for healthcare © 2014 NHS National Genetics and Genomics Education Centre One of the patients that you see regularly for hypertension management is worried that they might develop dementia as their father and maternal grandmother have both developed it in their 80s. During an immunisation clinic a family asks you to help explain a letter they have received from the regional genetics centre. The baby has an autosomal recessive condition and even though the letter explains this the family are still uncertain about what it means