 Magantang araw sa inyong lahat. Good day to all. I am Dr. Carmen Sita Padilia, one of the proponents of the newborn screening program in the Philippines. Join me in uncovering the wonderful story of newborn screening in our country. Together, let's zoom in on what makes NBS, a comprehensive program for every Filipino here at newborn screening in focus. To ensure that newborns are truly healthy, they must undergo newborn screening, a public health program that helps determine if a baby is born with one of the more than 20 congenital disorders. Its importance cannot be overemphasized. If any of the congenital disorders are left undetected and not managed immediately, it can lead to mental retardation and even death. It was integrated into the public health delivery system with the enactment of Republic Act 9288 or the newborn screening act of 2004. Now part of the PhilHealth's newborn care package, newborn screening is being offered in more than 7,000 hospitals and birthing centers nationwide. It has also saved thousands of children. This educational series is intended for health professionals who deliver services of the newborn screening program. Whether you're online or offline, this program aims to further enrich your knowledge in newborn screening and be able to apply the highest quality service to Filipinos, especially during the challenging times. We will discuss the very process of newborn screening from the moment the baby is born and into the continuing care available for newborns found positive. We will also zero in on the features and management in each of the conditions included in the newborn screening panel. We will also interview patients as well as their parents. And in keeping up to the challenges, talk over how facilities and centers managed to give quality service despite the limits brought about by the COVID-19 pandemic. This program is the newest educational platform for our newborn screening coordinators, one in every 7,200 health facilities throughout the country. We also hope that this series will also benefit the health professionals, physicians, nurses, midwives, meddex, as well as students in the health professions. So take a seat, get comfortable as you're in for quite an adventure here at Newborn Screening in Focus. Good day to all. Welcome to the 12th episode of Newborn Screening in Focus. In this episode, we will learn that the Newborn Screening program goes beyond the screening and diagnosis of particular disorders. The long-term follow-up of patients is indeed neither too sure that a patient diagnosed with a particular disorder is given the appropriate treatment and care management. This will help provide a better quality of life for our patients. So today, we will look into the role of the Newborn Screening Continuity Clinics or NBSCCs and the Centers for Human Genetic Services, CHGS, in the delivery of care to our patients. Currently, there are 15 NBSCCs strategically located throughout the archipelago. They serve as ambulatory clinics for patients diagnosed to have disorders in the ENBS panel. These clinics facilitate the continuity of care of confirmed patients in their area of coverage. Due to the full implementation of expanded newborn screening in 2019, the CHGS was established to facilitate comprehensive clinical management and genetic counseling services and other treatments readily available locally or commercially. There is one CHGS serving every main group of islands, one in Luzon, one in Visayas, and one in Mindanao. And there are plans to establish other centers in the near future. September 2019 ay nakomper maang aking anak na si Isa Marcela, nakakuna-unahang bata dito sa Pilipinas sa kondisyong tyrosinemia Type 1. At kami po ay nagpabalik-balik sa Maynila para po sa kanyang gamutan at konsultasyon sa mga doktor sa PGH. At dito po, ipinakilala po sa akin ang continuity clinic dito sa Region 1 ang ITRMC at dito po nakilala si na nurse Vanessa Mabalo at si na doc Ivy Rose Acosta. Sangin po ay dalawang taon na po silang nakagapay sa amin sa lahat po ng pangaylangan ng aking anak. Tongkol naman po sa medicastron at management ng aking anak, sila po yung nagiging instrumento para makarating po ang mga gamut at mga formula nakailangan miisa. Sila po yung tumutulong sa akin para mabilisan may parating lahat ng aking concerns at mga katanuhan sa mga doktor na nasa Maynila yung wag kung kakalimutang tumawag agad sa kanila kung halimbawang magkaproblema po ang aking anak o may kakaiba po siyang nararamdaman. Ipinapalala po nila yung mga napat kung gawin kaya po ng pagpapakuhan ng mga laboratoris ni Isa biometrik at mga bilang usukat ng mga iniinom nagamot at gatas. Ganon din po sa paggawa ng food diet ni Isa para po sa kanyang food diet. Kaya sa awa po ng Dios maayos na maayos po ang kalagaya ng aking anak na yun sa tulong po ng continuity clinic dito po sa region one. Sa mga magulang po na kagaya ko na may mga anak po na may kakaibang kondisyon wag po tayong mawalan ng pagasa hangkat maaga po makipagtulungan po tayo sa mga especialista para po maagapan ang sakit ng aking mga anak. Wag po tayong matakot. Pwede po everyone. Good day everyone. Thank you for accepting our invitation. You know, our topic today is very important for our coordinators because these are two partners that are working together to make sure that we are working together to make sure that we are working together at parts of the program that have been recently implemented. So maybe let's start the conversation and let's start with Dr. Meach. Dr. Meach, what is a newborn screening continuity clinic? The newborn screening continuity clinic assures that patients diagnosed with disorders included in the expanded newborn screening are followed up and we would like to assure that these patients have optimal growth and development. So it is not enough that these patients are screened for disorders included in the panel. Our role in the continuity clinic is to assure that we optimize the growth and development of these patients. So Dr. Meach, how does the patient get into the continuity clinic? So the newborn screening centers they have short-term follow-up teams and the short-term follow-up teams help establish the diagnosis of these patients. So they assist in doing the confirmatory test needed and they also start to connect these patients to the recommended or the needed specialist. Now once the diagnosis has been established in the short-term follow-up the patients are now endorsed to the continuity clinic for long-term care. So just for the benefit of our viewers the long-term the short-term follow-up is actually assigned to the newborn screening center. So in other words when a patient is found to have a positive screen the newborn screening center is in charge of recalling the patient doing the confirmatory testing and closing the case. So only patients with a confirmed diagnosis are actually moved to the newborn screening continuity clinic. So thank you Dr. Meach. Let's move on to Dr. Lee. What is the center for human genetic services? So the center for human genetic services are centers that are being established in different areas of the country. So we already have one in Luzon. We already have one in Visayas. We're establishing one in Minda now. These are centers that have specialized care so not just doctors but other health professionals as well and they're there to assist the continuity clinics in the longer management of the patients. And for the benefit of our viewers the setting up of the centers for human genetic service is really very recent and it's supposed to assist all the continuity clinics in the management of the cases. So in other words it's a lifetime care and we need to have a lifetime supply of our specialists to be available for our patients. Let me go back to Dr. Mitch tell us about the composition of your continuity clinic. In terms of personnel the continuity clinic consists of a pediatrician and full-time nurse. Now the responsibility of the pediatrician or the long-term follow-up head is to give anticipatory guidance to these patients and also the long-term follow-up head also connects these patients to the needed specialists. So for example in a patient with MSUD the long-term follow-up head connects the patients not only to the clinical geneticist but also to developmental pediatrician to the nutritionist in the center and also to rehabilitation medicine for early intervention program. So what we are hearing from Dr. Mitch is that treatment of a patient consists of a team effort and most often our patients do not have a direct access to the specialist. So the example that she gave is maple syrupyin disease which we actually discussed a few webinars back and it is not enough that you have a pediatrician but you will need a metabolic specialist as well as a development of a pediatrician and even a nutritionist. So I would like to see the connection now between a continuity clinic and a center for human genetic services. So how do you connect to this setup, Dr. Leah? Okay, so let's think of the continuity clinics as their long-term primary care. So like in other countries they have their GPs for example or here as well we have our long-term doctors but our doctors in the continuity clinics or our teams in the continuity clinics actually need some guidance from metabolic specialists. They also need access to other healthcare professionals such as the specialized metabolic dieticians for example. So CHGS provides that much-needed support to our doctors to make sure that anytime they have any concerns about the management and to ensure that the proper and the best management is being given at the level of the continuity clinics. So Dr. Leah can you share with our viewers the composition of a center? So a center has the experts in terms of genetics and metabolism so we have our geneticist, metabolic specialist we also have doctors from the other fields that are involved in newborn screening so right now we have our hematologist as well as we are also screening for hematologic conditions. So aside from the doctors in the Center for Human Genetic Services we also have the other healthcare professionals who are also very specialized and are experts in their field. So for example we have genetic counselors and we also have trained metabolic dieticians who take care of our metabolic patients. Aside from these medical experts, we also have a social worker who serves as a patient navigator. Now because the social worker is at the center he is also tasked with capacity building for the home continuity clinic so we expect the social worker to be able to go into the details of each and every patient but through capacity building we are able to access social work needs for all of our patients and we have this entire team working together and not just limited to one area of the country but for the entire Philippines. Thank you Dr. Liya. So maybe for our viewers now let's pause and take a look at the whole system again. So we have the newborn screening coordinators for all the facilities that's basically the people watching us right now then we have the team at the newborn screening center who is testing and making a final diagnosis and this time what we're hearing from our two guests is that once a patient is positive they are turned over the patient is turned over to the newborn screening continuity clinic for long term care and the continuity clinic now is going to be assisted by the center for human genetic services okay so in terms of composition let's review again the newborn screening center would have medtex doctors the panel of experts the newborn screening continuity clinic has a pediatrician nurse and then we have our center for human genetic services which would have a geneticist pediatricians and family physicians we also have genetic counselors you forgot the pharmacist Dr. Liya we have our social worker and the metabolic the metabolic nutritionist as well as the different specialists if you look at what's missing in this whole discussion integral to this discussion will be the role of the centers for human genetic the centers for health development the CHDs the DOH regional coordinators because somewhere you will have to get connected and as we've heard from one of the webinars the DOH is a very important link so today we're just talking about the long term care of the patient so let me just share with our audience that as a rule and if you look at all over the world the role of newborn screening is primarily just to do the screen and as soon as they finish doing the screen and making a diagnosis they're just the patient is under the care of either the pediatrician or the university hospital they're connected with but what we've realized in the Philippines is that we don't have that established network to take care of these highly specialized cases and hence the setting up of the continuity clinics as well as the the centers for human genetic services so I think by this time you're seeing the big picture and we are really we want our patients to we want our patients to make sure that they are cared for lifetime now I'd like both Dr. Midge and Dr. Leah to give us an example of in terms of management on your role so I'll start with Dr. Midge first in terms of management and then maybe Dr. Leah can add on you know how if you can give an example to our viewers how do you connect in terms of real management of a patient I'll start with Dr. Midge okay for the management of a patient so we've mentioned earlier that once diagnosis has been established the patients would be endorsed the long term follow up to the continuity clinics now as Dr. Leah mentioned earlier we serve as the primary care physician of these patients now there are regions here in the Philippines where we only have few specialists so for example in the Mindanao region we only have one clinical geneticist so what the continuity clinic does is that he or she refers the patient to the specialist he or she connects the patient to the specialist to make sure that the patient is being monitored for his condition and as you mentioned earlier Dr. Padilla the involvement of the CHD also play a crucial role in the management of our patients why is that so they make sure that the patients are adherent to the given treatment they give assistance to the patients for example for our metabolic patients they provide the newborn screening parts the newborn screening monitoring parts also one of the purpose of the CHDs or the Centers for Health Development is that they also help the continuity clinic connect with the local government units now in our case here in Metro Manila some local government units also provide financial support or medical support to our patients diagnosed to have a disorder in the newborn screening panel so aside from the clinical geneticist the pediatrician in the long term follow up to the other subspecialists in the management of the patients so what I would like to reiterate is that this is a team effort the management of our patients diagnosed to have a disorder in the ANBS ENBS panel is a team effort Thank you Dr. Meech and highlighting the pediatrician is a team captain it's really the pediatrician who organizes all of this and that's why we have a pediatrician on board and just to mention that all our all our continuity clinics are actually in government hospitals they have been chosen by the Department of Health nominated and the hospital accepted the challenge of becoming a continuity clinic so let's move on to Dr. Leah further Okay so although we're lucky that we have several geneticists already serving different parts of the country it's still not enough but somehow we're growing in number the problem is in some areas of the country it's the geneticist alone looking into the welfare of these patients and that's why the center of human genetic services comes in very handy especially for these areas because the geneticist actually needs an entire team to support the functions of the genetic service for example accepting or coordinating the referrals coming in from the different continuity clinics is one of the main roles of the CHGS nurse and organizing them making sure that we're not missing anything and then coordinating the care with the geneticist so after the nurse and the geneticist or specialist looks into all of these cases we also look at the other needs of the patient for example medical food or other medical supply so these are things that are being procured now by the center for human genetic services because one of its mandates is to make sure that we have access to these orphan drugs and orphan products so with the mandate from the administrative order of the department of health we have to make sure that we are augmenting this supply these are not very readily available in the country so from the name itself there are orphan products or orphan drugs so it's very important that there's a center that actually makes sure that we're able to procure them from other countries where they're manufactured so taking that example of MSUD it's not enough for us to provide medical advice for this patient because medical advice will get you to know where if you don't the specialized milk formula that is the void of the leucine, isoleucine and variant so we have to make sure that we have these products and we have to make sure that we distribute them properly to the continuity clinics with the patients that meet them Thank you Dr. Liya maybe you can share with them how we distribute the medicine but just one point from from Dr. Liya's sharing the institute of human genetic actually makes the order for the whole country because it's really, it's not practical for every hospital to be ordering a can of milk or a few cans of milk so the institute of human genetics at NIH places the order for the whole country they project what is needed and then they take care of distributing it to the different continuity clinics Dr. Liya can you share with us how you send this medicine and milk products to the different continuity clinics Okay so the nurse and the pharmacist place a huge role in this because before the first step is actually checking to see what products we actually mean so this comes from coordinating with each of the continuity clinics how many patients do you have what are your patients needs at this moment and then we project the amount and the institute of human genetics then procures these products from different countries actually so we look for where from who distributes them and we make sure that we get the best product at the best possible price for these patients of course and then once we get them then we distribute them through the help of our NSCs of our NBSCCs our CHDs so once again the CHDs play a role here again because they make sure that all of these medications reach the patients who actually need them Okay so this just a reminder to our viewers these are life saving medicine and products Okay and unfortunately they are not available at mercury so not unless we get our act together our patients will die and we're very fortunate that we have patients who are alive now doing well and that's because we organized as a group to make sure that you'll be able to procure it properly and distribute but how do you send it that's what you can share Dr. Leah at sending this maliban sa mga ginagawa ng CHDs tell them and share it with them So traditionally of course we've used the most convenient means of transportation we send them by courier through the planes or through the buses but due to the pandemic of course and even before the pandemic actually there have been times when we actually needed to send the medications quicker in a more efficient way so we've had to tap our other government agency so there have been times when we've sent medications life saving medications with the help of the Philippine Air Force for example there have been times where we've had to take you to use the other transportation of the Department of Health for example so this is all a team effort with other government agencies just to make sure that the life saving medications reach the patients on time it's been more difficult I must say with the pandemic going on with a lot of cancelled flights and a lot of limitations in transportation but through the efforts of the team and the other government agencies we've been able to get the medications to the patients Thank you Dr. Leah You remember in one of our episodes we had the sharing from the from the newborn screening centers and also with the CHD coordinators where in they've used the military, the military, the Navy the Air Force everything, anybody any agency was willing to be part of the program so once again the team effort does not really limit itself to the people within the center or within the hospital within the program but we have agencies who have actually shared their resources with the program Now both are young in terms of setting up and if I remember for the newborn screening continuity clinics it was set up in 2014 towards the end and then for the Centers for Human Genetic Services it was set up only in 2019 very young actually we're now in the stage of just getting our act together can you share with our coordinators, with our viewers what are your challenges in implementing the program your role as a putting together the continuity clinics and then maybe for Dr. Leah the challenges for the Centers let me start with Dr. Meach what are your challenges I would like to relate my challenges with the current pandemic so during the pandemic this was the time when we strongly utilized the use of telemedicine or teleconsultation in the follow up of our patients I must admit that at first it was a trial and error process for us because for our continuity clinic for example the provinces in region for me so in the Mi Maropa region so there are areas in the Mi Maropa region where there is difficulty in connecting to the internet so what we sometimes do is that we call the patients by the cellular phone to ask if they're being able to continue their treatment and if they're adhered to other given treatment now in relation also to the pandemic one of the mandates of the continuity clinic is to make sure that the patient receives his or her appropriate care for his diagnosed disorder so I would just like to share a story with the group so there was a time when we had lack of levothyroxine here in Manila and nearby Rizal so we were able to find the supplier of this levothyroxine for us to be able to deliver these medications faster to our patients we asked the help of private citizens and we also shelled out money so that we could buy these medications so as Dr. Leah mentioned earlier the CHD help us distribute these medications there were also private citizens who were more than willing to help us distribute the following medications so again what is emphasized here is the team effort we could not do this alone it is not a perfect system but with the collaboration of the different agencies and the different services involved in human screening we are able to give appropriate care for our patients okay thank you Dr. Mitch, Dr. Leah what are your challenges? so one challenge is the supply of the orphan products this was also affected during the pandemic because early on during the pandemic the supply chain was it went down I mean worldwide of course so medical food was affected and this made us realize actually that we should not be reliant on the international supply of this medical food so at some point in the future we're looking forward to actually having the production of local medical food as well so we're actually already in talks already with the FNRI team for this also one challenge from the pandemic was similar to what Dr. Mitch said that that communication all has to be online and I actually think of this somehow as a good thing because it helped us refine our telegenetic system as well we've had telegenetics ever since even before the start of the pandemic and this has helped doctors in other areas connect with geneticists and specialists from the institute but because of the pandemic we were able to refine the system so the telegenetic system is now in place the continuity clinics refer their patients to the CHGS through online means and this has been very helpful and even the patients are now used to this type of communication of course there are challenges because our internet connection is not always very good here in some parts of our country but we're slowly being able to utilize it very well I think those are the challenges that we've had so far and the good thing I think is that we're learning from all of them but thank you Dr. Lian and Dr. Midge by sharing your challenges and then finding solutions we can always find for a new kind of solution like engaging the private sector in delivering the supply of our medicine and then in the case and both cases where internet is a problem, all we had to do was to refine yes indeed we've had telegenetics way before the pandemic came but this the pandemic actually allowed us to also show that you don't have to see the patient face to face because before every time you need a follow up you have to be a face to face but you realize that there are many ways of following them up and when the border is closed and we have to find the way on how to see them now my last question for both Dr. Midge and Dr. Lian will be if you had a chance to what would be an ideal setup for the continuity clinics just how many do we need in the country let's start it Dr. Midge according to the strategic framework of the new world screening program so the goal of the program is to have at least by 2030 by the year 2030 we have at least 85% of the provinces with facility for long term follow up for our patients currently we have 15 but there are provinces that has satellite clinics so we have satellite clinics in the western Visayas region in the Bicol region they have a satellite clinic in Naga and they also have a satellite clinic in Surilondres elsewhere so hopefully I would love to have more continuity clinics I want to bring the continuity clinics closer to the patients and aside from that I would also like to have stronger collaborations with our frontliners in the community yes we do acknowledge that our patients do need specialist care but I think it would go a long way if there are if there are people in the community if our frontliners in the community are patients it would go a long way if there is someone in the community who makes sure that the patient is adherent to treatment and that make sure that they are adherent to their medications so basically that is my wish list for the continuity clinics more continuity clinics and more collaborations with the specialists and the frontliners in the community I would also like to mention that one of the mandates of the program is to train more specialists to train more clinical geneticists and more pediatric endocrinologists so that we would have more specialists in the different provinces in the different regions thank you Dr. Leah what's your wish for the program or in terms of CHGS we would like to have fully staffed of course CHGS in the different parts of the country for this year we're looking at Luzon, Visayas and Mindanao but after this year we'll have another one in northern Luzon and another one in Mindanao just to make sure that we're really able to look into each and every continuity clinic monitor all the patients provide them with specialty care and the products that they need aside from that we'd also want of course a sustainable fund to be able to ensure that all of the orphan products orphan drugs are available to our patients please thank you Dr. Leah can you just give us the number of patients that are being followed up in all of the continuity clinics right now just a a total right now we are seeing around 5000 patients across the 15 continuity clinics okay so many sorry the 5000 patients are being in the continuity clinics same number that's being monitored actually by the Centers for Human Genetic Services so before I ask you for your final message I'd like to review our audience again this being very new components of the newborn screening program both the continuity clinic as well as the Centers for Human Genetic Services are additional components to the national comprehensive newborn screening program of the Department of Health there's always room for growth and involvement room for improvement and growth and you've heard from both Dr. and Dr. Leah that whatever we have right now is not really enough if you want to really help our patients then we need more of these clinics and Centers on the ground so before we close can I request both of you to give your final word to our to our audience as I said our coordinators from all of the newborn screening facilities in the country that we start with Dr. Mich your final message okay so again I would like to emphasize that the goal of the program is not just to screen patients with disorders included in the panel our goal is to make sure that these patients would have optimal growth and development so that is our role in the continuity clinic and again if there is one thing that I really wish that we have for us to have more continuity clinics it is to bring more continuity clinics to our patients to assure that they are being monitored for their diagnosed condition also I would like to emphasize is a team effort we could not do this alone we have we need the support of the different government agencies and the private sector Dr. Mich, Dr. Leah your final message to your audience so I would just like to reassure the continuity clinics and newborn screening facilities and centers that the centers for human genetic services is here to assist to bridge the gap from the continuity clinics to the experts and to work hard to make sure that the products that the orphan products that our patients need will reach them in the future we would also be catering not just to newborn screening patients but patients with other genetic conditions as well because they also need access to specialized genetic care that we are otherwise not able to provide to them so this is also a good avenue for us to be able to share that expertise with people from the communities so thank you everyone for your continued support to the program well thank you Dr. Mich and Dr. Leah definitely this is not the last time we're inviting you we'd like to know what's happening probably in a year's time we expect that you will have more continuity clinics and probably more centers for human genetic services and we'd like to maybe share with the group how else you know your continuing efforts to improve the program parami salamat Dr. Mich and Dr. Leah thank you very much to our guest for today to our virtual audience please send us your comments questions or the list of topics that you want us to cover in our succeeding episodes email us at info at newbornscreening.ph or you may tweet us at newbornscreenph and also include the hashtag hashtag enpsph before we end I want to again take this opportunity to present to you the new addition to our tools in learning our ENBS mobile app the ENBS mobile app is a one-stop hub for all ENBS health workers on everything they need to know about newborn screening it also features a rewards program that our health workers can use to earn points and use it to claim shock vouchers with our partners if you have already downloaded the app answer the quiz that we will send to your ENBS to earn those points we continue to improve our services as deemed necessary by the emerging challenges through an open dialogue about our experiences in newborn screening it is our hope that through this video series we extend the sharing of knowledge with greater reach empower our plantliners improve connectivity with the newborn screening coordinators and most importantly provide unparalleled service to every family for our finale episode for this season we will interview three adult patients with two of them who are diagnosed through the newborn screening program one has congenital hypothyroidism one has congenital adrenal hyperplasia and one has napo-serobirin disease tune in next week and listen to their stories and how they live their lives as a student a professional and a parent these and more here in newborn screening because nothing is more precious than seeing a child grow healthy and normal let's realize this through newborn screening newborn screening is a gift of life