GTC5.2014 Recognise a mode of inheritance in a family

Overview

This standard is about recognising a mode of inheritance in a family from a diagnosis, pedigree or family history information. Disorders which appear to run in families may be inherited, environmental or caused by a combination of genetic and environmental factors. Recognising a mode of inheritance in a family involves considering: who is affected in the family how they are related the underlying genetic mechanism the possibility of the same condition being caused by different modes of inheritance similar signs and symptoms in several members of a family. This is in order to meet the healthcare needs of the individual and their family, including surveillance for potential complications and to make the offer of genetic information where appropriate. Users of this standard will need to ensure that practice reflects up to date information and policies. Version No 2

Knowledge and Understanding

You will need to know and understand:

patterns of affected people associated with the modes of inheritance of the genetic conditions in your area of practice
the information required to identify and confirm a mode of inheritance in a family
that someone who appears to be the only person affected in their family may still have a genetic cause for their condition, which could have implications for subsequent generations
symptoms and clinical signs of genetic conditions within your area of practice
how to read a pedigree
how to access information to clarify or confirm medical information on the pedigree
the value, use, advantages and limitations of genetic or genomic information and how this changes/informs future practice and treatment

Performance Criteria

You must be able to do the following:

ensure you have sufficient information about the grouping of symptoms and clinical signs of known conditions in the family, consulting with specialists as required
clarify and confirm with the appropriate person any information that is missing or about which there may be uncertainty
determine the likely mode of inheritance in the family using your knowledge of:

the condition's usual mode of inheritance or
the characteristic patterns of affected people seen in the different forms of inheritance, comparing these with the pattern seen in the family

where a specific condition can be inherited in different ways, consider whether the pattern shown in the family would be compatible with each of the known modes of inheritance for that condition
determine whether any action is required to confirm the mode of inheritance and refer appropriately if required
act within the limits of your role, responsibility, knowledge and experience, seeking further advice if the pattern of affected people seen in the family does not fit an expected mode of inheritance

Additional Information

This National Occupational Standard was developed by Skills for Health. This standard links with the following dimension within the NHS Knowledge and Skills Framework (October 2004): Dimension: HWB2 Assessment and care planning to meet people's health and wellbeing needs