1 / 17

Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice

Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice. Hopkinson , I. Presentation at reality not hype: the new genetics in primary care, 2004. One in 10 patients seen in primary care has a disorder with a genetic component. Genes and disease.

yale
Download Presentation

Genetics and Genomics: Alert, Ask, and Act – Identifying the 10% in your practice

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Genetics and Genomics:Alert, Ask, and Act – Identifying the 10% in your practice

  2. Hopkinson, I. Presentation at reality not hype: the new genetics in primary care, 2004. One in 10 patients seen in primary care has a disorder with a genetic component

  3. Genes and disease Peptic ulcerDiabetes Schizophrenia Haemophilia Duchenne muscular dystrophy Tuberculosis GENETICENVIRONMENTAL Scurvy Spina bifidaIschaemic heart diseaseAnkylosing spondylitis Phenylketonuria RareGenetics simple CommonGenetics complex

  4. Multiple closely related people with the same condition • Disorders that occur at a younger age than usual (egcolon 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 General clues

  5. www.geneticseducation.nhs.uk Clinical information for specific conditions

  6. What information should you collect? • Information depends on the context and reason for collecting: • Establish biological relationships • Clarify the medical conditions that people have • Three generations • For each person: • Full name • Date of birth (or age) • Date of death (or age died) • Medical information (age at diagnosis)

  7. How should the information be recorded? • Longhand notes • Family history form • Family tree

  8. Reassure • Knowledge of the condition • Local/national referral guidelines • Refer • Refer to guidelines • To the GP or clinical genetics service • Seek further advice • Trusted sources of information • Clinical Genetics Department On-Call Service

  9. Clinical Genetics Services

  10. Genomics • The ‘genome’ • The genetic make-up of a living thing • Genomics in healthcare may involve the genome of: • a person • a pathogen • a tumour

  11. Uses of genomics • Personalising disease management • Predicting drug responses • Diagnosing infections and tracking epidemics • Producing therapies to target genetic alterations Understanding the basis of diseases Refining diagnoses

  12. www.geneticseducation.nhs.uk

More Related