To add one patient at a time
When you add one patient at a time, you can specify the name, birthdate, gender, and ethnicity for the patient as well as a unique ID for the patient. You can also add relationships to the patient, and you can add one or more phenotypes for the patient.
1. On the Geneticist Assistant main menu, click File > New Patient.
The Add New Patient dialog box opens. The Add Patient tab is the opened tab.
2. Enter the information for the new patient.
Option | Description |
---|
External ID | A unique ID for the patient. |
First Name | The first name for the patient. |
Last Name | The last name for the patient. |
Date of Birth | The patient’s date of birth. You must click in the field, and then manually enter a new value, or you can use the Up/Down arrows. |
Gender | Male or Female. |
Ethnicity | The ethnicity for a patient, for example, Caucasian (Non-Hispanic). |
3. If applicable, to specify relationships for the new patient, select Is Related to Existing Patient and then do the following:
a. Select the relationship type, for example, Father. (The available relationship options depend on the patient’s gender.)
b. Select the existing patient for this relationship. (Select the patient on the select existing patient list, or double-click the patient entry in the All Patients pane.)
c. Click Add.
The Relationships About to Be Added list displays the relationship that you have specified for the new patient.
4. Repeat
Step 3 to add as many relationships for a patient as needed.
| If you add a relationship in error, right-click the relationship, and then select Remove Selected Rows. CTRL-click to select multiple relationships for deletion. |
5. If applicable, to add a phenotype for the patient, do any of the following:
• On the Add Phenotype dropdown list, select the phenotype, and then click Add. You can repeat this step as many times as needed to add multiple phenotypes for the patient.
The added phenotype is displayed in the Phenotype pane.
• If the appropriate phenotype is not available, then you can click New Phenotype to open the New Phenotype dialog box and enter the phenotype. As you enter the search string, a dropdown list opens. The list is dynamically updated with the phenotypes that are found in the Human Phenotype Ontology database that match the search string.
| The search string is not case-sensitive, and the string can be found anywhere in the search results. For example, a search string of “thyroid” returns phenotypes of thyroid adenoma and secondary hyperthyroidoism. |
6. Optionally, to add a comment for the phenotype, do one of the following; otherwise, go to
Step 7. • In the Comment field, single click twice, enter the comment, and then click anywhere outside the field.
• Right-click the phenotype and on the context menu that opens, click Add Patient Phenotype Comment.
7. Click OK.
Two results are possible:
• If you have encryption enabled for your Geneticist Assistant instance, then the Add New Patient dialog box closes. The new patient record is displayed on the Patients tab. For specific identifying information, asterisks (*) are displayed.
• If you do not have encryption enabled for your Geneticist Assistant instance, then an Invalid Encryption Certificate Setting dialog box opens, warning you that no Encryption Certificate is selected and that data will be submitted without encryption. Go to
Step 8. 8. Click Yes.
Both the Invalid Encryption Certificate Setting dialog box and the Add New Patient dialog box close. The new patient record is displayed on the Patients tab, with all identifying information fully visible.