How can QGenome support pregnant patients with a personal or family history of a genetic condition?

QGenome is a smartphone app designed to help clinicians in busy settings determine eligibility for genomic testing and/or eligibility for referral to Clinical Genetics. The app contains information pages and workflows that provide a user-friendly interface to support clinical decision-making in different healthcare settings.

Case study 1

Claire is 26 years old and recently found out that she is pregnant. Claire is attending the first appointment with her midwife and during the appointment the midwife asks Claire about her family history. Claire explains that her younger sister and a cousin on her mum’s side of the family have Down syndrome. Claire is quite anxious and asks the midwife if the diagnoses in her family could have an inherited cause and if there is a higher chance that her pregnancy could be affected by Down syndrome. The midwife wonders what to tell the patient and wants further advice to assess her eligibility for a referral to Clinical Genetics.

The midwife opens the QGenome app on her smartphone and on the homepage sees a page called ‘Prenatal Genomics’. She finds an information section called ‘Down Syndrome (Trisomy 21)’ where she reads that most cases of Down syndrome are not inherited but around 4% of cases are inherited from a healthy parent who carries a chromosome translocation. In the information section, the midwife sees a link to a workflow to help conduct a risk assessment for a patient with a family history of Down syndrome. The midwife clicks on the link and this takes her to a workflow called ‘Common Chromosomal Conditions - Risk Assessment’.

She starts the workflow and this prompts the midwife to ask Claire if her sister’s diagnosis had an inherited cause or if it was a sporadic (random) event. Claire was not sure but she remembered that her parents had genetic testing after her sister’s diagnosis. However, she could not remember the outcome of the testing.

The workflow prompts the midwife to gather more information. So she asks Claire to speak with her parents and see if they have more information. Claire calls her parents and Claire’s mum explains that the genetic test showed that she carries a chromosome translocation which confirmed that her sister’s diagnosis of Down syndrome had an inherited cause. The midwife restarts the workflow and inputs that the diagnosis had an inherited cause. The workflow asks if the patient is currently pregnant and she confirms that she is. The workflow suggests the midwife to make an urgent referral for Claire to the Regional Genetics Service. The midwife clicks on a link which takes her to the Contact Us page and here she finds a referral email address for the Regional Genetics Service.

Case study 2

Nina and Mike have recently got married and are planning to start trying for a family. Mike has known for a while that one of his cousins is affected by a genetic condition but doesn’t know any specifics, so he asks his mother for more information. She tells Mike that his cousin, Lorna has a condition called cystic fibrosis. This information worries Nina and Mike – are they at risk of having a child affected by cystic fibrosis?

Nina goes to her GP to ask for some pre-conception advice. The GP has never dealt with this kind of query before so he takes as much information about the family as possible and finds out the following:

  • Nina has no family history of CF

  • Mike has never been tested for CF

  • Lorna, Mike’s cousin is on the paternal side of his family and she is his Aunt’s daughter. She has CF and is now in her 40s

  • Mike's mum has never been tested for CF

  • Mike’s dad, aunt and uncle have all had genetic testing when Lorna was born 40 years ago. His dad does not carry a CF mutation but his aunt and uncle do.

The GP wants to double check what would be recommended for the couple knowing all of this information. Luckily, he has been made aware of the QGenome app and has this downloaded. He searches QGenome for “cystic fibrosis” which shows there is an information page- ‘Cystic Fibrosis’ and risk assessment workflow- ‘Cystic Fibrosis - Risk Assessment’.

To learn more about the condition he first uses the information page which states cystic fibrosis is a recessive condition, both parents must be carriers for them to have a risk of having an affected child.

Now knowing this information, the GP starts the workflow ‘Cystic Fibrosis - Risk Assessment’. This prompts the GP to consider the family history, he notices that the workflow recommends a user draws a genetic pedigree to make it easier to see who is at risk in a family but as he has never done this before he follows the link to the page- ‘Taking a Family History’. Using the step by step guidance on this page, the GP draws the family tree using the information Nina gave him in their initial appointment.

With a family tree drawn, the GP can easily go back to the risk assessment workflow and work through this. It asks what the patient’s relation is to the affected individual, if the patient has ever had any genetic testing and if any intervening relatives have had testing. Using his family tree, the GP can see that Graham, Mike’s dad is an intervening relative in this case, and he has already had testing showing he doesn’t have the mutation. The workflow then helps inform the GP that the couple are not at risk of having a child affected with cystic fibrosis and no referral to clinical genetics is indicated.

The GP calls Nina the next day to let her know that they are not at risk and gives them general advice for family planning, recommending folic acid and maintaining a healthy lifestyle.

QGenome enables clinicians to identify patients who need to be seen in Clinical Genetics for urgent care in pregnancy.

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

Anju Kulkarni