Problems & OpportunitiesWhat is carrier screening?ApproachSolution1. Service discovery2. Taking a pre-screening survey3. Receiving Test recommendations4. Taking an at home test5. Getting further referrals & Sharing dataFeedbackImplementation Learnings
Problems & Opportunities
Genomics is still not part of the everyday health vocabulary
Low awareness of genomics services in many patients & physicians
Many GPs do not know when to bring up genomics during consultations
- Older healthcare professionals are often not equipped with the knowledge to refer for testing
- Very little reliable information available on the possibilities of testing
Patients fear knowing results, without knowing options available
- Patients often unaware of available treatments, avoiding information altogether
Carrier screening is well accepted by the medical community, but not all who are eligible know they can take it
- Genetic services are not well distributed geographically, often siloed in wealthy areas
- Carrier screening is a preventative measure that has potential to save the NHS millions in the long term
Couples often stop avoiding pregnancy before conceiving
Many couples in long term relationships do not plan pregnancies; possibly missing out on important tests
Discussing family health history is not commonplace in couples who do not plan pregnancies.
Men don’t often take health-related steps in preparing for a pregnancy
Pre-natal tests are often done too late, especially for pregnancies
Getting a carrier screening test is a lengthy and complex process.
- Within the current system, patients must be highly proactive and health literate to receive a test referral
The first midwife appointment happens at 12 weeks of pregnancies, with results taking even longer, causing undue stress for patients.
- Many patients face the choice of either terminating a pregnancy or keeping a child who might not be able to survive infancy
- 1 in 25 children in the UK are born with a genetic disorder; many are fatal
Results should be easy to share with partners in a reassuring way
- Both partners need to be carriers for the child to have a risk of being affected with a fatal disease
- Positive results have a risk of being a burden in a relationship
What is carrier screening?
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. It provides life-lasting information about an individual's reproductive risk and their chances of having a child with a genetic disease.
It can be easily done with either a saliva sample or a blood test.
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Approach
With such a new and polemic topic, we ensured to involve Patients and SMEs — from genetic counselors to ethicists — in every step of the process to ensure fairness throughout.
1. Understanding users + context
Our approach relied on understanding early on the current genomics capabilities of the NHS, as well as user needs & pain-points.
This led us to select pre-conception carrier screening as the ideal point of intervention as has reached clinical maturity and is well known in the medical community.
This kind of test also had great potential to be offered at home, in a safe context, enabling a greater share of the population to partake in services that might not be offered in their area.
Further findings:
- Current recessive genetic disorder patients wished carrier screening to be more accessible.
Genomics is a family issue, yet discussions about medical history are often taboo
- Lack of communication between partners can lead to missed diagnostics
- High trust for the NHS, low trust for the government, especially in minority populations.
- Carrier screening is available for all ethnicities, whereas other genetic services do not have a diverse enough dataset to be able to be provided for all
- Treatments are available through the NHS to help carrier couples conceive a healthy child, such as IVF PGD
2. Speculative thinking
"Have you ever seen Gattaca?" may sound like a silly question, but our collective understanding about genomics is still heavily informed by fiction.
We tapped into the imaginative future to further understand the context and avoid pitfalls. Scenarios and propositions were built and backcasted to understand how they might unfold.
The conclusion was clear: The consequences of not providing accessible testing are much higher than the risks associated with democratizing it.
Further findings:
Users might fear a future of "designer babies"
Backcasting further showed that the technology is far from being possible, besides being seen as anti-ethical by SMEs
Note: not the same as a designer having a baby
Ensuring better access to carrier screening would diminish health disparity gap
It is already common practice for private healthcare users, but tests are too expensive for the general public
Target users are more comfortable being tested for fatal and incurable carrier genes.
Being tested for a gene that increases likelihood of a disease happening only increases anxieties.
Not recommended by the medical community anyway
3.Ideating + prototyping concepts
Once at home screening was established as a viable and desirable option, we prototyped the interface with potential users.
Users proved that the screening service should be both educational and reassuring. This informed how we present information, heavily influenced by the concept of microlearning.
Financial feasibility was also researched and tested at this stage, showing the potential for the service to save the NHS millions of pounds in the long run.
Further findings:
Other services such as 23andme and NHS Covid tests have improved acceptance for at home testing
The digital touchpoint had to provide space for "gray areas" of screening and provide referrals for
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4. Iterating for implementation
With the needs and feasibility tested out, the service has been in the process of implementation by our project partner; potentially becoming a service pattern for other services.
The current MVP will be much more stripped down to fit within budget and current capabilities of the trust, working primarily as an educational tool to bring more people into the genomic service.
Further findings:
The key roadblock to at home testing would be the GP referral process, which still cannot be skipped due to commissioning models.
Current EHR capabilities are limited and require much manual processing of results.
Lab and logistics partnerships also need to be set up and integrated
If successful, the project has potential to be scaled nationally.
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Solution
ROO: a digitally native healthcare at home testing service providing accessible carrier screening testing for autosomal recessive genetic disorders, available for all adults.
ROO removes barriers to screening by providing easy to understand information to users, and simplifying the testing aspect, making it as easy as answering a survey, receiving a parcel and shipping it back
1. Service discovery
The service is aimed at couples aged 25-35, before they have children.
To reach such an audience we will rely on three main channels:
- Targeted social media ads
- An easy to share link for known genetic disorder carriers/patients to encourage relatives to get tested
- GP ambassadors, encouraging their patients to go through the service
2. Taking a pre-screening survey
The pre-screening survey functions as a way to gather in depth family health history at the user's own pace.
"GPs don't usually have the time to have an in-depth conversation about family history" — D.M., GP
The family history questionnaire breaks down information in an easy to understand way, and encourages people to ask their family members to give them the right information
The survey also includes informed consent throughout the process, and discloses the risks and treatments associated with possible results
3. Receiving Test recommendations
After users complete their family history, a simple algorithm selects what panels each patient should be tested for — eliminating costs of unnecessary tests.
"We already use algorithms to determine if a patient should be tested" — D.G., Genetic Counselor
Patients would still have the option to schedule a pre-testing genetic counseling appointment for emotional reassurance in case they are not sure about taking the test.
4. Taking an at home test
At home testing is increasing in popularity within the NHS: it frees up resources to those who might need most, and saves costs.
This is also emotionally safer than a hospital, as they can cause anxiety in patients.
“We would have never imagined that people would be taking HIV tests at home, why not do the same with carrier testing”
The pandemic has normalized telemedicine, and services such as the NHS COVID testing scheme and SH:24 have paved the way in normalizing at home testing.
If successful, ROO can be a service pattern for future genomic services, broadening access for all
5. Getting further referrals & Sharing data
Emotional support:
One of ROO's core beliefs is that bad news should never be delivered through an app.
“If the result isn’t good it is better to hear it from a real person” — C.H., Target user
When a patient receives a positive result / is a carrier they will be connected directly with a healthcare professional to discuss their results and what choices are available to them.
We will also recommend partners to get tested
Sharing is caring:
Users will have their carrier status linked with the NHS app, with the ability to share with their partners.
“I was aware of my carrier status, but my husband never thought about it” — O.S., Carrier
As this is a sensitive topic, ROO provides users with prompts on how to lead this discussion
Feedback
Implementation Learnings
- Trust not equipped to implement full solution
- Systems not well connected
- EHR not able to compute simple calculations
- Lab relationships
- Backlog of improvements
- Pared down solution to act as a proof of concept in the works
- Possible partnerships with charities can be an alternative to kickstart development of the full solution.
- GP referral still necessary (commissioning scheme)
- Please see: Datagym
My team has been selected to implement a pilot of the project within the trust, so keep an eye for further developments
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