Family History Taking Uses

Why are family histories taken?

• For diagnosis and risk assessment  

• For research studies  

• To help establish rapport with the patient  

• To understand psychosocial and family background  

How does FH help diagnosis?

Can suggest inheritance features  

What happened in the Holt-Oram case?

• Male baby with upper limb abnormalities  

• Bilateral asymmetric radial aplasia  

• Family history reveals mother has a congenital heart defect and the maternal grandmother is missing a thumb  

• Links congenital abnormalities of upper limbs and heart of varying severities  

• Suggests dominant Holt-Oram syndrome  

What did the clues from the FH allow for?

• Appropriate molecular testing that confirms mutation and diagnosis  

• Cardiac investigations in the baby  

• Upper limb x-ray for the mother  

• Ongoing cardiac surveillance for mother and baby  

• Genetic counselling for parents as 50% of future child and wide variability in severity  

• Prenatal diagnosis to the parents – molecular testing to confirm presence of gene mutation  

How does a pedigree show the family background?

• Family structure, experience and sources of support  

• Simplest shows the close living relatives 

• If they have an understanding of the condition through a relative  

• Previous experiences of bereavement, illness or disability  

What do genograms do?

• Adds the emotional and social ties between family members  

• If someone is in contact to share the risks  

• If the young parent of an ill child is likely to be supported

What information does the pedigree have at the top?

Key information includes: clinical file reference number, date (later updates too), name of consultand, name of person providing information, have an arrow to represent the consultand  

What are the symbols for: affected/unaffected male/female, consangenious, identical/non-identical twins, termination of pregnancy, spontaneous miscarriage, stillborn of unknow and death

What is the first bit of the tree built?

• Start by asking about first degree relatives of the consultand 

• Siblings, parents and offpsring if applicable  

What is the second stage of the family tree?

• Then ask about second degree relatives  

• Grandparents, aunts and uncles, and grandchildren  

What is the third stage of the family tree?

• Ask about first cousins and further if relevant  

• As a male ask about more distant males and could be X-linked  

• Don't need to ask about them on the fathers side  

What is the forth stage of the tree?

• Important to directly ask about information that may not be provided  

• Reproductive loss – have you lost any pregnancies  

• Deceased sibling or other relatives – did the parents have any other children  

• Consanguinity – has anyone in the family married a cousin  

• Can learn about infant death that might not have been disclosed if asked about other siblings  

What happens in the sixth stage of the family tree?

• Can then add full names, date of births and death  

• Causes of death and any other diagnosis  

• Can't ask if anyone in the family has the condition  

• Requires the detailed medical information 

Who do you want the most information from?

• Close relatives  

• Those who medical records may need to be requested  

• For those who may be at risk and may be referred at a later date  

How are trees edited at a later date?

• Described as a working pedigree that may need to be amended with subsequent contacts or new information  

• Recommended that these edits are made in a different coloured pen and clearly dated  

What are obstacles for obtaining a full pedigree?

• Adoption  

• Uncertain paternity  

•  Little/no contact with one/both sides of the family  

• Health/repreoductive issues no disscussed openly in family  

• Lack of awareness  

What should be done to overcome the information challenge?

• Inform patients in advance so they can gather some evidence  

• Explain which evidence that would be useful and support straterigies to obtain this  

What are the features of the consent of the information?

• The pedigree contains information about more than one individual  

• Clinical genetic records: family file including pedigree  

• File held separately from other hospital records  

How is as little information shared?

• The consultand can consent for family history information to be shared with other healtcare professionals if relevant to healthcare of other members of the family  

• Consider if they need the full pedigree and an abridged version can be shared so as little neccesary confidential information is revealed  

Do you share with another family member in clinic?

• If another family member comes to the clinic initially don't share  

• Want to know if the relative knows the other members have attended and how much they know  

• This determines if it is appropriate to share the full family history with them  

• Such as not knowing about termiantion of preganncies even though she knows who is affected  

What are the features of checking consent?

• Check with the patient if they are happy to share the information with family members  

• Might be some information that specifically doens't want sharing such as adoptions  

• This is clearly recorded on the pedigree and case notes  

• If the private information would make a significant difference, then counsellor should support the individual how to share the information  

When do you confirm family history?

• Obtaining conformations can be time and resource intensive  

• Only do it if the information will make a difference to the diagnosis  

• Suspected heart issues, no immediate family history but cousin is having an investigation at another hospital  

• Accessing the records might give evidence to the sudden brother death and provide testing for the individual  

How can you confirm a family history?

• Death certificates  

• Cancer registry  

• Path report  

• Genetic lab report  

• Hospital records  

Should tests be done before information?

This is preferred to performing panel in a healthy individual in the absence of a molecular diagnosis or affected family member  

When is information especially important?

• For cancers having the correct pathology and site can change management in 20% of families  

• Individuals can help by obtaining death certificates and get consent for affected relatives to have their records accessed