1. Test your understanding – a quiz about the correct order of asking questions when taking a genetic family history

2. Here is the complete family tree we have just built up branch by branch for four generations of this family. How many generations we need to collect in practice depends on the clinical question being asked and the genetic condition in the family. Usually information about three generations is collected, but at other times it may be necessary to collect only two.

3. Your patients position in her family is shown with an arrow. Five situations now follow. In each, you have just collected information about someone in the family, and we ask you to click on the person/people about whom you would next collect information. You can have a maximum of three attempts at each situation.

4. Situation 1: You have just collected information about your patient. Click on the person/people about whom it is best to ask next. Continue

5. 1: Yes, it is usual to collect information about your patients current partner and children first (and then any previous partners) before other people in the family. If your patient does not have a partner or children, go straight on to collecting information on her parents. 2: Not yet! Although it is important to collect information on your patients father and mother, it is more usual to collect information on your patients partner and children first. 3: Not yet! Before moving on to other members of your patients family, it is more usual to collect information about your patients partner and children. And it would have been better to collect information on your patients parents before her brother so that the relationship between him and your patient can be drawn correctly. 4: Not yet! Collecting information about your patients sister-in-law and her children would be unhelpful at this stage because it would not be possible to draw the sister-in- laws relationship on the pedigree without other members of your patients family having been drawn first. Taking information about the sister-in-law at this stage may lead to confusion. 5, 6, 7, 8, 9, 10, 11 and 12: Not yet! Taking information about these relatives at this stage is unlikely to be helpful and may lead to confusion as the intervening relatives between your patient and these members of the family have not yet been drawn in Situation 1: Text to come up when a branch is clicked

6. Situation 2: You have just collected information about the sibling of your patient. Click on the person/people about whom it is best to ask next. Continue

7. 1 Unlikely - You would usually have asked about your patients partner and children already. Going back to them now in the family structure following information about your patients sibling may lead to confusion. 2 Unlikely - You would usually have asked about your patients parents already so that you were able to draw in her brothers and sisters in the correct pedigree relationship 3 You have just asked for information about her brother (her sibling). What information should you ask for next? 4. Yes, now is the time to ask about partners and children of your patients full siblings (that is, brothers and sisters who have the same mother and father as your patient). If your patients mother or father has had children with other partners, ask about the partners and children of these half- brothers and half-sisters next. 5, 6, 7, 8, 9, 10, 11 and 12: Not yet! Taking information about these relatives at this stage is unlikely to be helpful and may lead to confusion as the intervening relatives between your patient and these members of the family have not yet been drawn in Situation 2: Text to come up when a branch is clicked

8. Situation 3: To help clinical management in this family, you need to collect information on the relatives of the parents of your patient. Is it better to start with the relatives on her mothers or her fathers side of the family? Click on either her mother or father to give your opinion. Continue

9. Two hot spots only – one on her father, another on her mother. Answer (same for both): If information about the extended relatives of your patients parents is required, it does not matter whether the questions begin with her father or mother but, whichever is chosen first, it is important to try to leave sufficient space for information about the other side of the family. Whether it is necessary to collect this information on these groups of relatives depends on the clinical question being asked and whether the condition might be one inherited in such a way that there might be a family history in these relatives.

10. Situation 4: You have just collected information about both parents of the mother of your patient. Click on the person/people about whom it is best to ask next. Continue

11. 1 Unlikely - You would usually have asked about your patients partner and children already. Asking about them now whilst you are in the middle of taking information about your patients maternal side of the family may lead to confusion. 2 No - To have reached the level of the grandparents of your patient, you must already asked about your patients parents. This was necessary to be able to draw in the relationship links between your patient and these relatives, her maternal grandparents. 3,4 No - To have reached the level of grandparents of your patient, you should have already asked about these relatives. It is better to complete information in one generation before ascending to the next generation. 5 You have just asked for information about these people, your patients maternal grandparents. What information should you ask for next? 6 Yes - As you have collected information about your patients maternal grandparents, any other children they may have had can now be drawn in (that is, any aunts and uncles of your patient on her mothers side of the family). 7, 9, 10, 11 and 12: Not yet - Taking information about these relatives at this stage is unlikely to be helpful and may lead to confusion as the intervening relatives between your patient and these members of the family have not yet been drawn in 8 Unlikely - Before moving onto the relatives of the father of your patient, it is best to complete asking for information on the maternal side of the family first. This helps avoid confusion.

12. Situation 5: You have just collected information about the parents of the partner of your patient. Click on the person/people about whom it is best to ask next. Continue

13. 1 No – You will have asked about your patients partner and children already; this is necessary to link the partners family to your patient. 2 3,4, 5, 6, 7, 8. No – It is best to collect information on only one side of a family at a time to avoid confusion, so continue with the relatives of the patients partner. 9You have just asked for information about these people, the parents of your patients partner. What information should you ask for next? 10 Yes - now is the time to ask about the siblings of your patients partner (brothers and sisters) 11 and 12: Not yet - Before moving onto the extended relatives of the parents of the partner of your patient, it is best to complete asking for information about children in their partnerships first. This helps avoid confusion.

14. Thank you for completing our quiz. We hope you are convinced how helpful it is to take a branch by branch approach to taking a genetic family history.