Introduction

Krishagni invites feedback from end user community on recording the participant's family relationship in OpenSpecimen. In a particular or across protocol(s), there are participants registered who are related to each other. Below are some real use cases highlighting why capturing familial relation plays major role in many studies:

Important risk factor for common chronic diseases such as cancer (like hereditary cancer syndromes) heart disease, and diabetes for which various centers conducts research to define, measure, and assess family history in populations and individuals
Various biorepositories such as Breast and Colon cancer family registries conducts studies on the genetics and molecular epidemiology of breast and colon cancer
A family history also can provide information about the risk of rarer conditions caused by mutations in a single gene, such as cystic fibrosis and sickle cell anemia.
By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.
Important in Pediatric genetics: Understanding genetic factors and genetic disorders is important in learning more about preventing birth defects, developmental disabilities, and other unique conditions among children.

High level requirements

Administrator should able to turn on/off capturing familial relation feature at Collection Protocol level.
User should be able to provide immediate family history information at participant level
Should be able to view and download Pedigree tree.
Support collecting consanguineous relation data
Biospecimen searches based on familial relationships of participant.

Turn the feature on and off at CP level

Below are two different approaches to capture familial relation:

Approach-I

Fields Description:

Attribute	Description
Relation Name	Drop down indicating family relation values ( Note: Evaluating Standards to refer family relations )
Name of person	Text field box in which user can start typing the existing participant's First name, last name or PPID with whom user wants to record the relationship and system should show matching participants. User can select from the matching list.
Add New	New participants or members can be added if non-existing in OpenSpecimen ( OpenSpecimen Participant ID will get auto generated on creation)
Add More	To add multiple relations
Delete	Delete any existing relation(s)

Advantages:

Simple interface
Capture multiple relations
Non-existing members can also be added dynamically and included in the pedigree

Approach-II

Step by step approach to capture familial relation:

Specify details about your immediate family members.
- In case of consanguineous relations :
  - If user selects 'Yes' for it then spouse details text field which is auto complete field, should get displayed where user can specify the name/PPID of spouse. If non-existing then on click to 'Add New' new participant can be added dynamically for whom OpenSpecimen Participant ID will be system generated.
  - If user selects 'No' then spouse should get auto added in the relation table which is displayed in the Next step.
On click to 'Next' button user should be able to view the relationship table.

On this screen you can:

User can enter family members names which is auto complete field where user can specify the name/PPID. If non-existing, can 'Add New' participant.
Remove any of the relative as required.
Add new family relations
Save the family and View the pedigree as per the relations described in the relation table.(in Next step)

User will be allowed to enter only immediate family members like children, spouse, parents, siblings. For other relations like grandparents, aunts and uncles, user has to go to specific participant and add the immediate family members. But pedigree tree generated will show relationship at all levels and not just immediate family members (see in next section), this will be based on consolidated information of family relations captured at individual participant.

On this screen you can:

User can view the whole family pedigree, based on all relations set at individual participant.
User can select the relation link and highlight the respective parents of the selected relation in the below relation table
User can configure the columns of the table as required like include additional columns related to participant, biospecimens or from DE forms.

View of whole pedigree tree of a participant. Pedigree tree generated by tool - Madeline

Advantages:

Step by step data entry
Easily add multiple members of the family

UML model

Changes to existing class: Below new attributes will be added to the Participant class

Marital status
Consanguinity - Is marriage consanguineous?

New class associated to participant - Relative with below attributes:

Relation - Enumerated data type field which will be list of relationship types.

Participant to Relative has two associations to indicate relation to and from a participant.

Value domain for relationship type

OpenSpecimen already uses relationship type drop down in Family History clinical annotation. We plan to use same permissible values list for relationship type which will be used to show different relations in the pedigree tree. See Relationship list for the whole set of values. This is registered on caDSR with public ID - 2690165.

Queries to be supported

OpenSpecimen should allow biospecimen searches based on familial relationships of participant. Some sample queries that should be possible:

Find specimens collected from all genetic siblings of particular participant. Show specimen and relationship of specimen’s donor to the participant.
Find all specimens of a participant and specimens of participant’s relatives who are diagnosed with specific clinical diagnosis.
Find all specimens of a participant whose maternal side is diagnosed with specific clinical diagnosis.