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Angelica Nesi, Chi Hu, Daniela Amorim Reis, 

Samuel Rueesch, Nattanun Sainont 

ROO is a digitally native healthcare service that provides accessible carrier screening for recessive genetic disorders. The project was developed in partnership with the Imperial College Healthcare NHS Trust. Together with a diverse cohort of healthcare experts and patients, we designed a service that can provide quick, easy, and equal access to these crucial genetic tests. In accordance with our research, we focused on couples and parents-to-be as they represent the population segment that can benefit the most from carrier screening. This specific user-base coupled with the complex and delicate topic of genomics required a tactful and empathy-driven design process. This balance between creating an efficient and simultaneously empathic and user-centered service was the core challenge and objective of this project. 

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Up to 1 in 25 children in the UK will be born with a genetic disorder. Many of these are life threatening and have no cure, and a lot of them follow a recessive pattern of inheritance, meaning that both parents had the same faulty gene, but don’t have symptoms. It is a lot more common than you’d expect to be a carrier, for example in the uk 1 in 25 adults carry the gene for cystic fibrosis. If both parents are carriers there is a 25% chance of the child having the condition. 

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The first of the five main goals of the NHS Long Term plan is to ensure everyone has the best start in life, ensuring expecting mothers can have healthier babies.

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Take the example of Ayo, who is 26 and has sickle cell anemia. Even though her mom had a brother who died of sickle cell as an infant, when Ayo’s mom was pregnant her doctor forgot to screen the baby for the disease until it was too late, only getting the test at 7 months pregnant. Her only choices were to terminate the pregnancy or keep a baby. She decided to keep Ayo.

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Screening happens too late for many. Often by the time people get their results they may have already created a bond with their future child. They are faced with tough choices: terminating the pregnancy, or keeping a child who may be affected by a fatal disease. This burden affects mothers disproportionately and creates anxiety for the couples.

What if we could give couples more and better choices? Can we change the approach to give parents time and the right environment to take wise decisions for their future? How can we do this? Through preconception carrier screening

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Preconception carrier screening is recommended on a large scale by many international medical associations. But in the NHS it is only offered if the patient is proactive and highly aware of conditions in their families, or during meetings with a midwife, that only happen once a woman is pregnant.

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Given the initial spark of the future possibilities of genomics in the UK, we embarked on a mission to understand not only the user’s perspectives, but also trends, systems, regulatory constraints, and financial limitations of innovating in genomics. This required 15+ number of in-depth interviews with experts, ranging from frontline staff to legal experts. Current patients with genetic disorders and prospective users have also been interviewed and prototyped with, in various forms. Understanding, envisioning, and creating a collective future for genomics with experts and patients helped us to narrow down our focus, and spot potential opportunities for improvement. It was also crucial for understanding what are the current systems and interactions we can leverage for making the service feasible and viable.

Following our extensive primary and secondary research, we found several interesting insights, however, one in particular caught our eyes. As medical experts described to us, patients—in this case couples—are often advised to take a genetic test rather late in their pregnancy. However, moving the entry point of carrier screening forward—even before conception—would anticipate hard decisions that couples have to take once a baby has been already conceived. To better underline the thought process that young couples currently undergo before having a child, we conducted further interviews with young mothers. We summarized our research in a comprehensive matrix where we divided what they "think", "do", "say" and "feel". Four key actions that later in the project were used to ideate services that can nudge people to perceive screening tests not as an antenatal service, but rather as a preventive solution that gives comprehensive information to young couples so they can act accordingly. For example, several of the interviewed couples do not actively plan their pregnancies, often just stopping contraceptives, and letting nature take its course. That could be dangerous if both parents are carriers of a genetic disorder, with a 25% possibility of their child develop an often fatal disease. Without carrier screening, couples have less choices, for example, one of our interviewees only found out her kid had sickle cell anemia when she was 7 months pregnant. By time she had the tough choice of keeping child who will sick or to terminate the pregnancy. 

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Our service can be divided in five parts in one journey, discovery, pre-screening survey, test recommendations, at home testing, and data sharing with your partner. Along the journey user navigate through, they could also find 4 digital touchpoints which is a core value of the service.

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We are attracting users with a content-based marketing campaign relying on online and offline channels. We will integrate real couple stories into young adult’s lifestyles to build recognition. We encourage our users to share their own stories on social media to create a network effect and increase the level of awareness and literacy.

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If we assume that we can test 10% of our targeted population, Roo becomes finically viable if yearly we can help 40 couples to give birth to healthy babies.

Just a small final note, Too could be also a service patter or a framework that can be used for diagnostic tests/service beyond genetics. Basically we create a process to filter and prioritise patients with the highest need for care attention.

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Just to be clear, We are not stopping anyone from having children, the conditions we are testing for can be fatal in childhood and others that lead to chronic disability and shortened lifespan. When we talked to genetic disease patients they wished there was better screening available.

There are many cutting edge treatments provided for free by the NHS that can aid future parents, but due to poorly distributed care, many are not aware of them. We provide a platform to allow everyone to have access to.

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Our project is quite ambitious but we have a gradual go-to market strategy, and in the next section we will go into detail to propose MVP to prove the service in a much smaller scale and with smaller capital requirements.

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The journey of sickle-cell and thalassemia could be a good example, which for the MVP we can implement with the Brent center Before building an app, we can market a web portal to have people sign in with their NHS credentials, so they fill in their family history questionnaire, get their recommendations, book a pre-screening phone call with a specialist nurse who can reassure patients about the test. Then they can do an electronic consent to receive and take the test at home, ship it back for analysis and get their results. If their results are positive they receive an email with the option of talking to a genetic counselor, to discuss further steps, for example getting their partners to get tested as well. And if the test is negative they just receive an email with the confirmation that it is negative. Of course their status will be recorded and easy for the patient to retrieve.

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