Rapid Preliminary Triage, CanRisk & More: Updates to the Cancer Risk Assessment Tool & Pre-Visit Patient Questionnaire

PhenoTips has been hard at work making improvements to the Cancer Risk Assessment Tool and Pre-Visit Patient Questionnaire, tools that together are revolutionizing medical genetics by enabling care to begin before a patient’s first visit.

Rapid Preliminary Triage

Imagine walking into your clinic and already having access to your patient’s complete medical and family history — pre-appointment, no paperwork or letter-based questionnaires, just the critical data at your fingertips. Picture having a fully drawn pedigree and running a comprehensive cancer risk assessment with just one click before your patient enters your office.

PhenoTips makes this vision a reality. The Genomic Health Record’s Pre-Visit Patient Questionnaire makes it easier than ever to capture vital information like family health history, personal medical background, and key risk factors. Whether you’re a specialist or a referring provider, you can effortlessly create and schedule a genetics-focused questionnaire that your patients can complete from anywhere on an intuitive, mobile-friendly platform.

Once submitted, PhenoTips seamlessly integrates patient responses, automatically generating a pedigree and populating critical fields like:

• Family structure and cancer history
• Cancer risk factors (such as smoking or contraceptive use)
• Medical diagnoses, coded as HPO terms, visually mapped on the pedigree to reveal patterns

Equipped with your patient’s relevant data, you can now run cancer risk assessments for any family member in the pedigree with a single click. Our Cancer Risk Assessment Tool gives you immediate access to risk probabilities to triage family members before anyone is seen in the clinic.

Over the past few months, the PhenoTips team has been making exciting improvements to the Pre-Visit Patient Questionnaire and Cancer Risk Assessment Tool to support your workflows, including adding CanRisk V2 to the list of supported industry-leading cancer risk models: GAIL, Premm5, and IBIS/Tyrer-Cuzick. Check out what’s new with our tools enabling care to start well before a patient’s first visit.

Improvements to the Cancer Risk Assessment Tool

PhenoTips has added support for CanRisk V2, which includes BOADICEA V6 and the CanRisk Ovarian Risk Model.

The new models provide several improvements, including:

• Incorporating data for BRCA2 risks from carriers with no family history of breast cancer
  • Previously, the risk scores were based only on women identified through clinical genetics, the majority of whom had breast cancer family history
• v6 now includes the effects of pathogenic variants in BARD1, RAD51C, and RAD51D
• Height is now a continuous risk factor
• Updated breast cancer relative risks for carriers of ATM mutations and updated mutation frequencies for the previously included genes PALB2, CHEK2, ATM
• Updated population cancer incidences, including for calendar periods up to 2018
• Cancer incidence rates can now be specified for Estonia, France, the Netherlands, and Slovenia
• Updated age-specific breast cancer pathology distributions for mutation carriers in PALB2, CHEK2, ATM, RAD51C, RAD51D and BARD1
  • Previously only BRCA1/2 tumour pathology distributions were included
• Changes to the default mutation search sensitivities for all genes, using newer data, and these can be changed manually depending on laboratory screening methods used

In addition, PhenoTips has added genes BARD1, RAD51C, RAD51D, and BRIP1 to the mutation probabilities calculator. To complement this, these genes have been added to the “Have you tested positive for any of the following genes” question in the Cancer Pre-Visit Patient Questionnaire.

PhenoTips has also added fields for OCP years, endometriosis, and tubal ligation to the calculator.

Improvements to Pre-Visit Patient Questionnaire Referral Workflows

PhenoTips now enables the assignment of a patient to a ‘study’ when scheduling a questionnaire. This allows Pre-Visit Patient Questionnaires to be scheduled at the point of care, allowing general practitioners (GPs) to schedule a questionnaire for a patient.

With a point-of-care referral, patients are ‘referred’ to a genetics service and show up in a specific study, allowing for easy identification of referred-in patients and subsequent review and triage. The genetics team now has an automatically generated pedigree and complete family history (and even cancer risk factors) for each patient before their first genetics appointment. These patients can subsequently be moved into a different study by the genetics team for easy filtering and finding of patients accepted into their service.

The referral workflow streamlines the referral process between primary care and specialist genetics departments, allowing for the rapid identification of patients who need genetic care the most.

Streamlining care, simplifying workflows, and improving patient outcomes—PhenoTips is revolutionizing genetics. Contact us today to find out more!