After the genetic test is over, the report does not understand what to do?
Editor’s note: This article is from WeChat public account “Silicon Valley Insight” (ID :guigudiyixian), by Jinxia Niu.
In today’s genetic testing, whether it is 23andMe in the United States or the Chinese gene, everyone should have heard about it. However, have you ever thought that if you get a genetic test report, it tells you that the genetic variation of APOE e4 is a high risk of developing Alzheimer’s disease.
This… does it mean that I have to get dementia?
This may not be the confusion of a genetic test consumer.
Recently, a friend named John (a request from the interviewer to hide his real name) has the same problem.
John is a practitioner in the biotechnology field in the San Francisco Bay Area. His mother received more than 200 pages of reports after genetic testing. One of them was a genetic variant called APOE e4 that warned of Alz. The risk of Haimo disease (also known as senile dementia) is high.
John’s mother was very scared at one time: What does this mean? What should I do? She wants to consult more with an expert, but finds that she doesn’t know who the phone should call.
In the end, in the industry of genetic testing, what other pain points are unknown? What companies are trying to solve these pain points now? Silicon Valley Insights will tell you today.
Explain the challenges of genetic data
Everyone knows, if you want to do your own genetic testing, what are the types?
At present, there are three main types of genetic testing reports: one is to analyze the genetic test of ancestral sources, to satisfy the user’s “curious” and “fun” appeals; yes, tell you, what percentage of your ancestors are from Europe, Africa and so on.
The second is a genetic test for health risks, through which you can know what diseases you may get and whether you have a family genetic disease. Especially for prenatal and reproductive genetic testing, cancer genetic testing is highly sought after. Like John’s mother, it is also of this type.
The third is genetic testing for individual lifestyles, such as whether you can drink alcohol and what nutrients you need to supplement.
So, these three types of reports are generally issued by genetic testing companies, that is, for different needs of consumers, so that you can show different reports.
Well, the first question is coming: a lot of people from the 23andMe, Ancestry (a gene-source testing company for the masses in Utah, USA) who directly report to the consumer’s genetic testing agency are facing John. A similar situation for mothers, let alone find the right experts for face-to-face consultation, and even few people can do well in health analysis reports based on genetic data.
Take the example of the star startup 23andMe in this field.
In the United States, reporting directly to consumers about health status requires approval from the Food and Drug Administration (FDA). Until approved, 23andMe is still providing users with genetic testing for health risks, but only provides raw data after testing, without analysis or interpretation.
Until 2017, 23andMe was licensed. This is also the first time the FDA has approved a health report that provides genetic testing directly to consumers.
This achievement is the result of 23 years of hard work by 23andMe after being banned by the FDA in 2014.
However, even if approved, reports can be provided, and there is a huge “knowledge gap” between such reports and consumers. How to give consumers appropriate “education” in the report to avoid unnecessary panic and misunderstanding is challenging.
For example, just having or not having a genetic variant is not always associated with a disease that people end up with. Genetic risk from genes is just one of many risk factors for developing a disease.
In the case of John’s mother, John finally found a friend who had worked in Illumina for many years. After reading the report, a friend told the other party that the genetic testing of the APOE e4 variant is usually in the diagnosis of Alzheimer’s disease. As a supporting test, the diagnosis of the disease requires a lot of other medical examinations to confirm. According to her current situation of only one such genetic mutation, there is no need to worry.
Another challenge in interpreting genetic data is that genetic variations corresponding to rare genetic diseases are easily identifiable, but common diseases require more genetic data and computational power to identify them.
This is why it was founded in 2007. Knome, Massachusetts (the first company to launch a full-genome sequencing commercial product, now mainly engaged in the interpretation of genomic information) needs to develop a large number of software systems for genetic data. Analysis and interpretation. In 2008, Knome announced a worldwide strategic alliance with Huada Gene.
In short, the analysis and interpretation of genetic data is a high threshold for both professional and technical thresholds.
Competitors like 23andMe are global, but only a handful of these startups can provide comprehensive analysis and reporting on consumer genetic data, which allows a health care professional to give meaningful disease predictions later. And personalized medication guidance reports.
Get the report, how to better interpret the report?
The person John’s mother is looking for, who can interpret the genetic test report, the professional name is “Genetic Counselors.” Because Genetic has both genetic and genetic meanings, after translation into China, there are phenomena such as “genetic consultants”, “genetic counselors”, and even “genetic genetic counselors”.
Some people will say that since it is about the disease, why not go to the doctor? The reason is that doctors can’t do the work of genetic counselors.
In 2006, the National Society of Genetic Counselors defined genetic counseling as: “Genetic counseling is to help patients understand and adapt to the effects of genetically related diseases on the physical, psychological, and life of patients and their families. “.
Generally, genetic counselors assess the likelihood of a genetic disease occurring or recurring based on the patient’s individual history and family history, helping patients understand the treatment and prevention of genetic diseases and assisting them in making appropriate decisions. . More importantly: it is a different system from the doctor.
In a nutshell, genetic counselors have a special two-year postgraduate program and a professional certificate administered and issued by the American Board of Genetic Counseling (ABGC).
At present, there are third-party companies around the world that focus on the interpretation of genetic data such as Knome. Does that mean that users need to split the entire process of genetic testing into three steps?
The first step is to choose a genetic sequencing company for testing;
The second step, after getting the data, go to a third-party professional genetic data analysis and interpretation agency to get a sufficiently detailed report;
The third step, if you really need it, can find a genetic counselor.
Obviously this is not a good user experience design.
The current industry players are taking 1+2, more comprehensive sequencing + deeper reporting; there are also very few 1+2+3, which package the consultant service in one step.
For example, George Church, a well-known scientist in the field of biotechnology, was in the horse in 2014.Veritas Genetics, a company founded in Lierland, differs from partial genetic sequencing for some diseases by announcing the launch of individual genome-wide sequencing and a disease-related pathogenic or potentially pathogenic genetic variant that encompasses all known diseases in the genome. The report, of course, is also much higher than 23andMe, Ancestry.
There is also Las Vegas-based Sure Genomics, which not only provides personal whole-genome sequencing and reporting, but also provides a $100 payment on the homepage of the website, uploading data from the 23andMe, Ancestry gene sequencing, and getting new More detailed genetic data reporting services. Business providers like this also have Xcode Life Sciences.
(Photo courtesy of Sure Genomics)
Compared with a large number of companies worldwide that can provide third-party genetic data analysis reports, there are very few companies that provide genetic consulting services, almost no.
Myriad Women’s Health, founded in the San Francisco Bay Area in 2018, is a combination of Counsyl and Myriad Preventive Care, specializing in female reproductive and cancer genetic testing and health management, and its website provides genetic testing to reporting. , then to a service that communicates with approximately 20 ABGC-certified licensed genetic counselors.
Mapmygenome, a medical technology startup focused on cancer oncology in India, also announced the availability of services ranging from genetic testing to reporting to communication with genetic counselors. Users can spend 3,000 rupees (about 300 RMB) to purchase a single order. The consultation, but only the names and resumes of the three genetic consultants were published on the website.
(US Labor Bureau data, states that provide genetic counselor jobs as of May 18)
Although users can search for face-to-face or telephone communication by region and genetic disease classification, the process is lengthy and the results are not guaranteed.
John tells Silicon Valley that when you can’t get timely and accurate report interpretation, users will feel confused, frustrated and scared, and then try to find explanations and help through various channels like John.
However, the process of a typical user seeking help is like this: “Doctors will say that genetic reports are not in my profession. Insurance companies will say that genetic testing is not covered by insurance. Companies that do genetic testing will say us. Only reports are provided, no consultation is provided. Finally, some people finally find the American Genetic Consulting Association, but they are in a long search and waiting…”
In response to the plight of these users, entrepreneurs in the United States have begun to build a mobile APP platform like Uber, registering genetic consultants to the platform to manage and operate. Before the consultants are employed, they will be given uniform training. Then, users only need to submit their own genetic test report, the platform will help him match a consultant, interpret and communicate through voice call and email, etc.The fee depends on the number of consultations and the time.
Of course, this model is not without challenges. One of the most important challenges is how to ensure that the platform can register these rare genetic counselors and ensure a convenient consultation experience.
In addition, in the United States, consultant resources are also facing “household” restrictions.
For example, licensed consultants in each state in the United States can only receive customers in the state. In some states, only two genetic consultants in the entire state will not be able to cope with a large number of genetic report interpretation and consulting needs, even on the platform. There are other genetic consultants, but because of policy restrictions, there is no way to “receive” these customers.
The lack of genetic counselors is the same in any country.
In the Chinese market, although the gene sequencing consumer market is growing rapidly, the training of genetic consultants was only started by the Fudan University School of Life Sciences until around 2013. In recent years, Huada Gene has also actively cooperated with universities to train genetic counseling. division. Overall, because of the late start, the genetic counselor’s training and certification system is still being explored, and the talent gap is enormous. Many people even thought that China “has no genetic counselor”.
Conversely, if a professional third-party genetic counselor platform is established, it will also stimulate the development of this profession.
Is there a small partner who has done genetic testing? Is the report difficult to understand? What kind of challenges do you think the genetic advisory platform of this “Uber model” will have to do, and what positive changes will it bring? Welcome to leave a message to discuss!