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“Affordable genetic testing is quickly becoming a reality for everyone”

“Affordable genetic testing is quickly becoming a reality for everyone”

Shane Quinonez (MD)

Shane Quinonez (MD) is a clinical geneticist based in Michigan, in the United States. For the last four years, he has been coming to Ethiopia, helping build the local healthcare sector. Introduced to Ethiopia by the noted Ethiopian – American medical doctor, Senait Fisseha, Quinonez reflects with The Reporter’s Samuel Getachew on the highlights of his times in Ethiopia, on a new app he has developed to help advance the local healthcare, on capacity building and his long-term vision for St. Paul’s Hospital, his local partner hospital in the country. Excerpts:

The Reporter: You have been back and forth between Ethiopia and the United States since 2015 contributing the changing landscape of the local healthcare sector. What have been the highlights so far?

Shane Quinonez (MD): The major highlight for me has been the people at St. Paul’s I have built relationships with during our time together. The success of long-term collaborations is built upon these lasting connections. Programmatically though the highlights have been the launch and subsequent publication of the MiGene Family History App. 

This app was used by doctors in the Pediatrics and Obstetrics/Gynecology departments and assisted them with the collection of patients’ personal and family histories of congenital anomalies and genetic disease. Rivaling this highlight though has been the recent deployment of a genetic counseling training curriculum for nurses at St. Paul’s.

What exactly are the benefits of the app?  

The MiGene Family History App is an Android-based mobile application used by healthcare providers which assists with the collection of a patient’s family history. After a family history is collected the app outputs a set of genetic counseling recommendations personalized to the specific patient. All of the entered data is also stored and allows us to determine a population’s prevalence of congenital anomalies and genetic diseases. In its current state the app focuses on both pediatric genetic conditions such as Trisomy 21 (Down syndrome) and cleft lip and adult-onset conditions like high blood pressure, diabetes and cancer. The app has the potential to collect real time epidemiologic data on any population while simultaneously providing patient-specific genetic counseling information.

How were you introduced to Ethiopia and to St. Paul’s Hospital?

I was initially introduced to St. Paul’s through Dr. Senait Fisseha’s revolutionary work here in Ethiopia. While she was still at the University of Michigan, we were able to connect and discuss my growing interest in expanding medical genetics services worldwide. Following our initial conversation, she introduced me to the faculty in the Pediatrics and Ob/Gyn departments at St. Paul’s. These connections have subsequently led to the various clinical, research, and medical education projects that have grown over the past three years.

You have seen up-close the importance of genetic testing but how its cost are prohibitive. As someone who has worked with the local St. Paul’s Hospital, what do you think is the most effective way to make it accessible to the poor and vulnerable?

This is a great question that also addresses the risk of introducing a technology too soon as the subsequent reagent purchases, maintenance and troubleshooting often proves prohibitive for long term use of the product. To address the many issues surrounding this and also the cost aspects surrounding genetic testing, I feel it is important to start these projects by first showing the value of the servicing being proposed. This allows policymakers, physicians, and patients to understand any cost incurred through the technology.

Fortunately, today genetic testing is become much more affordable than it has been in the past. The human genome was first sequenced in 2003 and cost USD 2.7 billion. Advances in sequencing technologies have drastically decreased the current cost of sequencing a human genome to less than USD 1,000. While this cost is still prohibitive for many, affordable genetic testing is quickly becoming a reality for everyone. 

One of the highlights of your time in Ethiopia is the establishment of SPHMMC that has graduated nurses trained in Genetic Counseling Program. That is one example of capacity building that is needed, not just within Ethiopia but across the region. Tell me about that?

From the start of my work I have always felt it very important to make the genetics services as comprehensive as possible. There are many aspects of a genetic diagnosis including the initial clinical suspicion of the condition by the doctor, the eventual diagnosis be it through a physical examination or a specialized genetic test, and the counseling of patients and families on the genetic condition, its treatment, surveillance, and recurrence risk. 

My hope is the program we are developing at St. Paul’s does not focus on just one of these variables but rather is building capacity in all of these areas. The launch of the genetic counseling program has been one of the first steps aimed at educating doctors, nurses and patients on congenital anomalies and genetic diseases. We have a lot more work to do but it is my hope the results of the St. Paul’s program will motivate others to focus on similar projects.

Ethiopia has introduced medical genetics services and you had a hand in its foundation. That must have been a rewarding experience for you.

Absolutely! This work would have been impossible though without the intelligent and motivated doctors and nurses I work with at St. Paul’s. I cannot stress enough how much this work relies on the people involved. When creating a new program or introducing a new service, there are so many foreseeable and unforeseeable roadblocks. It takes a lot of perseverance to push through. It continues to be a lot of work but work that is absolutely worth it.

You have worked within the United States health care system where the private sector has a big hand in the way care is delivered the vulnerable. You have seen the challenges of Ethiopia’s health care system up-close. Do you think the private-public-partnership is the way to go for Ethiopia’s overwhelming healthcare challenges?

This is a great question that I may not be fully equipped to address from a large-scale standpoint. My work in the expansion of genetics services though could clearly benefit from partnerships between the private sector especially as it pertains to advancing genetic testing and telecommunication technologies.

What is your vision for St. Paul’s Hospital as one that has benefited from the partnership your team is involved in?

My goal is for St. Paul’s to become a model institution in Ethiopia and throughout sub-Saharan Africa on how to best introduce and expand medical genetics services for the patients they care for. The eventual goal for St. Paul’s is that their medical genetics capacity increases to a level where my involvement is no longer needed.