How can QGenome benefit families with a history of cancer?

Lisa is 37 years old. She has just been diagnosed with breast cancer. The diagnosis came as a surprise: as Lisa tells her doctor, she has always led a healthy lifestyle, she exercises frequently (even running marathons!), usually tries to eat a balanced diet, she rarely drinks alcohol and has never smoked. She’s not aware of any family history of cancer and her mother has always been healthy. After talking to her extended family and doing some digging, she finds out that her paternal aunt, who lives in another country, also had breast cancer in her 50s.

When Lisa attends her Oncology appointment, a question arises: could Lisa’s breast cancer be caused by an inherited genetic predisposition? Could she benefit from a genomic test?

Lisa asks her doctor why genomic testing would help. She learns about personalised management options, for example, if she had an inherited predisposition to breast cancer, she may choose to have a risk-reducing mastectomy as part of her treatment plan. She also learns about the possible risks to other family members, and even her children in the future. After some discussion, Lisa feels this could be helpful information to have, and is keen to find out more.

We currently offer testing when the chance of finding a genetic alteration (pathogenic variant) in a patient is at least 10%. To be able to identify people at risk and guarantee equity of access across regions, a set of criteria have been established in the UK National Genomic Test Directory.

QGenome makes it easier for clinicians to determine when it is appropriate to order a test. The app contains ‘Genomic testing workflows’ that provide a user-friendly interface to navigate the testing criteria.  By using QGenome on their smartphone, the Clinical Oncologist is able to quickly confirm, at the point of care, that Lisa is eligible for genomic testing because she has been diagnosed with a grade 3 breast cancer under the age of 40 years. The Clinical Oncologist proceeds to discuss the implications of the test with Lisa and obtain informed consent. They can access key forms (Record of discussion and Test request) directly from the app, and by linking the app with their work e-mail, they can forward the forms directly to the relevant parties.

In addition to looking for an inherited predisposition to cancer (Rare disease testing), clinicians can use QGenome to look for guidance regarding testing to identify genetic alterations in tumour tissue that may influence treatment choices (Cancer genomic testing). In Lisa’s case, QGenome indicates that she is eligible to have a ‘multi-target expression array’ in line with current NICE guidance.

Meanwhile, in primary care, Lisa’s sister, Alice, who is 40 years old, visits her GP to ask about her own risk of developing breast cancer, wondering whether she should be having more regular checks. By using QGenome, the GP is able to quickly identify that Alice meets the criteria to be referred to secondary care. The ‘Referral guidance workflows’ on QGenome enable primary care clinicians to identify which patients may benefit from onwards specialist referral.

Shortly after, Alice attends her appointment in secondary care. The local Family History nurse asks some questions about Alice’s family history and uses the ‘Risk assessment workflow’ on QGenome to determine whether Alice should be having additional breast surveillance. As it turns out, Alice is at moderate risk of developing breast cancer and is eligible to have annual mammograms from 40 to 49 years of age. QGenome also enables the Family History nurse to save the result of the assessment for her own records, or forward it to Alice or other healthcare providers if needed.

The result of Lisa’s genomic test will give clinicians clarity about whether her breast cancer is likely to be sporadic or can be attributed to an inherited predisposition. The management options for her and her family will be very different in each of these scenarios. To aid with arranging follow-up care, QGenome provides guidance to clinicians about how to interpret the possible results of a genomic test and what actions might need to be taken in each scenario.

By gathering a wealth of Cancer Genomics evidence-based knowledge in one app, QGenome allows busy clinicians to save time and increase efficiency.

If it sounds like QGenome could benefit your patients, why not try it today?