Genetic diseases care service by easy-to-understand guidance
and medical archives for families and next generations
9 Weeks (2020)
The NHS provide genetic test, and it can help people understand whether an inherited health condition may affect you, your child or another family member and show if they are at higher risk of getting certain health conditions, including some types of cancer. Their aim is to promote genetic test service and make it part of routine care, so people can be prepared for their possible diseases in the early stage. But, People feel uncomfortable with the process of the test as the test is not well-known, and cannot fully understand what the risk means. Also, the system needs to be improved and integrated from the medical profession's perspective.
So, the project goals are
1. Guiding people to know what they will do and need to prepare for the genetic testing.
2. Explaining what the result means and introducing the following-guide for prevention.
3. Making system which can collect medical records.
THE NHS'S NEEDS
In order to improve the health of the whole UK population, the NHS plans to popularise genetic testing by preventing the inherent disease in early-stage and study the reasons, and provides personalised care for patients. Also, although the digital environment has not yet been completed, NHS is trying to digitize medical services and systems within five years.
Genomic Medicine Service
The NHS's aim is to make whole-genome sequencing (WGS) as part of routine care.
Based on what matters to people and their individual strengths and needs.
Over the next five years, patients can access to online ‘digital’ consultations
PROCESS OF GENETIC TESTING
To understand the general user's journey and prepare a questionnaire and interviews we needed to explore the process of genetic testing. As it is a test for identifying genetic disease risks, it is not available to everyone and can only be examined by a GP's or specialist's referral.
Referred by GP
Collect family medical records
a family tree
Take the test
Get 1st counseling
Receive the result
and 2nd counselling
Get further treatments
(if it is needed)
If their families have the disease or they belong to a particular race (Jewish) they can be tested.
Users need to collect family medical records to analyse genetic risks
Users need to build a tree for family history analysis up to 3rd generation.
Tests are carried out through various methods such as draw blood, X-ray.
Based on records collected by users, counseling is conducted to identify the possibility of disease.
Counseling is conducted to explain the results.
If users already have a genetic disease, the treatments are needed.
We conducted a survey to get opinions about why people are being tested, what they are most worried about, and the experience of genetic testing. 80 participatory from Lynch Syndrome UK filled out our survey, and we have got 685 short answers. Through the questionnaire, we found that people were also careful about their impact on their children as much as they wanted to know about their potential for disease.
What people want to know from genetic testing
Find the risk of passing diseases to next generation
Know the risk of getting diseases
Seek accurate treatments
STAKE HOLDER MAP
Based on the survey, we studied who would be involved in the service to conduct in-depth interviews. When building services on the NHS side, we realized that not only internal systems but also external companies were working closely together for analyzing the risks and providing various information, so we included them in the map. Also, we tried to contact them to get some inspiration
Since we realized that many people were worried about future generations, we interviewed parents with genetic diseases and drew a journey map. Also, to know the current situation deeply and the inconvenience people actually felt, we interviewed counsellors and people in genetic charities.
PAIN POINTS WITH JOURNEY MAP
People found it difficult to gather information, to understand the result information and following steps, and worried about future generations.
PRIMARY TARGET & CATEGORIZED DISEASES
Based on the research and interviews we decided to set our target as test receivers who have a genetic predisposition with their underage children. And, Through research, we found that genetic diseases appear differently according to the age of a child and classified as the solution can be different to prepare for the risk.
with their underage children
They are worried about their health and the risk of passing down genetic diseases to their children.
who have a genetic predisposition
that will affect their children when they are grown up (+18 years)
Breast cancer, Ovarian cancer
Prostate cancer, Pancreatic cancer.
that will affect their children from an early age
Charcot-Marie-Tooth disease, Tourette syndrome, Tay-Sachs disease, Haemophilia
Since we realized that many people were worried about future generations, we interviewed parents with genetic diseases and drew a journey map. Also, to know the current situation deeply and the inconvenience people actually felt, we interviewed counselors people in and genetic charities.
Laetitia(34) & Gabriel (36)
Their baby Caleb(7), Layla(5) have possibility to have BRCA1 it might affects them when they grow up.
Molly(29) & Ethan(30)
I lost my grandmother and aunt because of breast cancer. I want to prepare something for my child just in case she has cancer in the future.
I have a charcot-marie-tooth disease and want to prevent my son from suffering from it in advance, but I don't know how to do.
I want to know the early symptom of the disease and record it to prevent the disease from progressing and to receive the best treatment.
I want to prepare for my child's risk in advance by collecting family medical records. Also, I don't want my child to struggle to collect them as I did.
Their baby Noah(1) has possibility to has CMT 4 genes which causes the charcot-marie-tooth disease
WHAT NEEDS TO BE CONSIDERED
& DESIGN CONCEPT
FamGene, designed as an official representation of NHS Genomic Medicine Service, is a physical-digital combined service that supports parents to better plan for themselves, the whole family, and the next generation.
WHAT WE OFFER
The service offers a digital web/app and physical collection kit for our users. NHS’s ultimate goal is to digitise all of the medical records, but they have not established the whole platform yet. So far, patients need folders to actually collect when they receive physical medical documents. These documents will gradually be digitally entered and stored.
Another reason is that some people still prefer to collect physical documents as they are not familiar with a digital platform.
- Genetic counselor
- Target user
We did two rounds of prototyping and conducted tests to get feedbacks from people including parents and expert.
Introduction to use service
"It would be nice to have an introduction to understand the service easily."
- Target user
Acceptable amount of information
"I do not want to put too much information in one service we can use links for them."
Different tone of words
"People want to see the results in a warm tone of hope, not just seeing percentage."
- Genetic counuselor
Scheduler for appointments
Digital platform for child care
" I need to organize the schedule as I have to meet a lot of people suddenly as soon as a child is diagnosed"
By engaging with FamGene, participants can manage family history and testing information, and genetic counselors and GPs can work more efficiently with participants. It ultimately contributes to NHS long-term plans for collecting medical data and digitalisation.
To build our service, we are not going to work alone. Throughout our research, we found many great 3rd party companies where they work with the NHS. For example, CanRIsk and PLSD already developed a system for risk analysis. We planned to collaborate with them by joining their meetings.
Final Web/App design
Add / Invite family members
List of family members
Users can see and add family member's profiles
Select how to add family members
Users can add family members by sending an invitation link, putting records manually or downloading files
Draw a family tree
Explanation about the family tree
Users can understand why family tree is important for
genetic testing and how it will be used.
Put family information to draw
If users put family members' information the system creates the tree automatically
Upload and collect medical records
People can easily upload medical records by taking a picture via the application and using a link from the hospital, as well as upload it manually. Also, all the medical records will be categorised.
According to the question people can add the information. Also, they can use pictures.
Input medical records
Easy-to-understand result/following advice
People found it difficult to understand what percentage of the results meant and wondered how the probability of having a disease would change over time. So, it shows comparisons with average percentages, meaning for percentages, and the possibility of having a disease that depends on age to help people understand.
Recording and script
By checking recording files and script users can listen to what they missed during the counselling.
List of symptoms
Users can see and check the symptoms
and report it to GP directly.
By checking recording files and script users can listen to what they missed during the counselling.
Following daily life advice
The service also provides the suggestions for diet and exercise based on user's disease and level of disease
Visualised result delivery
People can easily know about the service through introduction and review.
Also, it can notice that the service has a mobile app and lead to download it.
Care for child's risks
Parents can easily organize a lot of schedules and book appointments easily.
Possible diseases information
Parents can check the possible genetic
diseases and symptoms early.
For more accurate diagnosis parents can take and upload videos about symptoms based on possible symptom lists.
Genetic counsellor's page
FamGene can help genetic counsellors to better organize patient’s info and what the patient has uploaded. Furthermore, Counsellor will also use FamGene to deliver reliable and accessible information and advice to their patients.
The operations a counsellor needs to do will be highly modularized and embedded into their working style. so that FamGene can be an optimized tool for them to adopt in their daily practice instead of becoming an extra work.
Putting test result information
Counsellors can put the detailed
test result information, and notes.
Extra advice about diet and exercise
According to test result if patients need to care about their meals and exercise counsellors will put the links for the resource
A list of patients in charge of the counsellor appears.
Colour for adult page
Colour for child page
Colour for counsellor page
Based on researches and interviews we realized that people only can participate in the test when they are referred by a GP or hospital specialist. They will generally only be referred if they have a suspected genetic health condition or if they have a particular type of cancer. But, as NHS plans to popularize it gradually, this service broaden the range of target continuously.