Jana Monaco and Nakita Laing Transcript — Nov. 20, 2025

Rachel Jones/NPF (00:01):

For session three of day four, we’ll explore what many observers consider to be the most critical element of the diagnostic odyssey for rare disease patients and families. And that’s access to screening before and shortly after birth, along with genetic counseling. These resources can help many families and individuals find the information and potential resources they need. But as we’ve learned over the past few days that access varies dramatically between countries, regions, and continents. Today we’ll hear from two people who will strengthen our understanding of the importance of screening and genomic counseling. First, we’re joined by Jana Monaco. Two of her four children were born with a rare metabolic disorder called Isovaleric acidemia. Jana is a dedicated advocate for newborn screening because her son Steven, did not have access to comprehensive testing while her daughter Caroline did. She’ll explain their different life journeys Today, Jana is joined by Nakita Laing. Nakita is a registered genetic counselor and an honorary lecturer with the University of Cape Town in South Africa. She’s actively involved with the university’s master’s program in genetic counseling and plays a key leadership role in the clinical service delivery, clinical training and lecturing of genetic counseling students and interns. Jana and Nakita, thank you both so much for joining us today.

(01:52):

I want to start with Jana because as I told you, I first saw a post on Instagram with a picture of Steven and Caroline. It was back in the summer as I was beginning to plan for this training and I knew in that moment there was a compelling story to explore. But then last month I saw you at the Nord Breakthrough Summit, and so I think the fates have aligned nicely. But I want to start by having you share your children’s story and your work in newborn screening advocacy.

Jana Monaco/Rare Disease Mom (02:34):

Thank you, Rachel. And I think you have the slides there somewhere. Yes, I’m going to share my screen. Great. Thank you. Yes, thank you for that introduction and I do believe it was serendipity, Rachel, to connect the way we have. As you know, I have been dedicated to advocacy for newborn screening for the past over 24 years, and that all started with my son Steven, who is the third of my four children. Basically, as you can see in these pictures, these are my two rare kiddos and she would just stay on the first one. Yeah, thank you. And that upper little corner is Steven when he was two and a half, and that was a time before his diagnosis when life was pretty normal to us. He seemed like a perfectly normal healthy little guy, but that all changed when he was three and a half in that bottom corner slide the picture. Essentially, as I said, we were living a normal life and then suddenly one day I found him unresponsive in his bed. He was taken to the hospital, transported to another hospital that had the pediatric intensive care unit, and we thought he was dealing with just a little stomach virus that would go away. And unfortunately 24 hours later he was in a coma on life support and they started talking about these genetic conditions that they were looking at. And we realized at that point there was more than a stomach virus going on here.

(04:27):

And after he slipped into that coma, he was on life support and dealing with swelling around his brainstem. And after about 24 hours later, they got the diagnosis and it took 24 hours because they had to curry out the test and do elsewhere because of what they are. And we got the diagnosis of Isovaleric acidemia or IVA for short. But at this point now, he was fighting for his life and we were quickly taught about these genetic conditions and explained that it is an autosomal recessive gene that both of my husband and I carry, and you have to have both genes in order to have the condition. We at the time had no family history. So it was a quick process in trying to understand maybe a little bit where it came from as they were trying to identify everything. But again, we were now dealing the component here that was most severe is the brain injury.

(05:38):

And he was admitted on a Wednesday Friday. We were told that if he survived the weekend, he would not be the same little boy that we once knew and loved because he would be very different. And that was a big, if he survived, thankfully he did. Over time, he started to progress. And so as you can imagine, it was gut wrenching to get that diagnosis and to try to explain to our family what was going on, trying to tell our other sons that were older that at one point that he may not survive. So as we moved forward and he did survive, he came through his coma, he started to progress. However, everything was changed because he was now left as a child with cerebral palsy with the same muscle conditions and so forth. But basically he could not walk talk. He had now epilepsy, he had a gastrostomy tube place for nutrition.

(06:45):

He had all kinds of problems. So we spent four weeks in the hospital, six weeks in a pediatric rehab. And so this just changed our lives forever. We were trying now to figure out how to find our own normalcy again, how to deal with the loss because it was a profound loss and adjusting. And my background is therapeutic recreation. So in one sense that did help me because I did work with children like Steven was now. So as we were trying to move along and adapt to our new way of life, our first night home from rehab, I sat and cried as I looked around at his room and all the medical equipment that was there, and I realized, gosh, this is our life now and it is very different. And then six months later we found out we were expecting Caroline. She was our little surprise.

(07:41):

And we found out actually before she was born that she too had IVA, we opted to do an amniocentesis to get an early detection because if you can screen and detect this condition early on, the earlier the better you can implement the right treatment. And that’s what we did. So we got the diagnosis and she was induced a week early so that everybody was on the same sheet of music. And she was taken to Children’s National Hospital in Washington DC where Steven was managed now with their geneticists. And she was there within two hours of delivery. She had her little IV place right there in the delivery room. She started receiving her special formula, her IV fluids. She did wonderfully and she was the biggest baby in the NICU and spent three days in the NICU and we brought her home. And fortunately we were already familiar with the routine of managing and treating IVA, but it was scary because we had the concern of what happened to Steven and the worry of we wanted to do everything to avoid that happening to Caroline.

(09:00):

And as you can see in these pictures, that early diagnosis, that early detection and management and treatment has changed her life drastically. The trajectory of her life is very different obviously than Steven’s. His started out perfectly normal. Although once we got the diagnosis, all the signs were there of IVA. It was just 24 years ago, 25 years ago. Not everyone was very familiar with the signs of these rare conditions. And so Caroline never had any interruption with her life, her health. She has had some issues with being hospitalized. We still have to manage her condition. She’s been hospitalized with stomach viruses or when she had her wisdom teeth extracted eight years ago, she had to be inpatient for that. She is an equestrian that she’s not my preference as a mother, but her passion has been horses her whole entire life. And she is an online college student in an equine studies program.

(10:19):

And then she wants to get into a dental program for horses. So they are her life, and that is her horse cookie right there where you see, and they had this little spell almost four years ago. She did fall and broke her leg. That was an immediate call to the biochemical geneticist managing her. And we had to, it wasn’t just going in for a broken leg like most people, it was we have to keep her metabolically stable as we deal with this crisis, this health crisis. So by doing that, you avoid the complications that Steven had and it, it’s been great.

(11:05):

And now we have raised her so that she recognizes signs, she understands the severity of her condition of what it can do if not properly managed. So we have dealt with these two different scenarios over the years as we guide her lifestyle and keeping her healthy. We’ve done the same for Steven, although his has been, it’s been 24 and a half years now since his diagnosis, and they’ve not been easy 24 years. And that’s why I advocate for this because we have these two children. We were labeled the poster family for newborn screening years ago, having two children with the same diagnosis, but two totally different outcomes. And the advocacy for me has been very therapeutic because my husband and I both felt something good had to come out of this very tragic situation. And I delve into the whole advocacy arena, immediately learned that.

(12:10):

And again, that was serendipity because when Steven got sick, this was coming to the forefront around the country here in the United States, that newborn screening, because so many other families had lived through what we lived through. Many lost their children in their arms. They just go to sleep and they drift into a coma and they don’t wake up. And so having Steven’s situation and then coupled with Caroline, it really truly paved the way to defend the argument that we need to expand newborn screening. And simultaneously the Health and Human Services Committee was formed here in the United States to address this issue and bring a sense of uniformity across the states. And they developed the recommended panel for newborn screening of what should be the standard for all states. And I jumped on that opportunity and I attended those meetings. I actually even had a four year term on that committee, and I took it to our state capital and said, we need to do this.

(13:20):

And I shared our story and we got our bill in place to expand newborn screening from eight conditions when Steven was diagnosed to 29 conditions in 2005. And since then the number has increased. We’re up to 33 or 34 conditions and there’s more coming. So that has really helped us as a family. It gave us a new sense of purpose. It has given Steven a very different legacy. I never wanted him to just be the little boy that had this unfortunate event of a brain injury and his life was ruined. We felt like there was more to Steven’s life than that. And he is our star. He’s been part of different legislations that I’ve helped get passed. He has gone around with my advocacy efforts. He’s been in Washington, DC on the hill. He’s been at our state capital in Richmond, Virginia. He’s been to the American College of Medical Genetics Conference out in Salt Lake City, Utah with me.

(14:33):

So his life has a very different purpose than what I think we originally thought for Steven, I said, and in the same breath, he’s had a lot of health issues. We actually just, I spoke with Rachel last week while we were inpatient. He was in surgery because he had his sixth surgeries since June to combat kidney stones. It’s unfortunately a common thing for somebody in a wheelchair at his age. Steven just turned 28 because he’s not up mobile running around, but he’s had a spinal fusion. He’s had various UTIs that put him into septic shock. So he’s had a complicated life medically. But then we have these plateaued periods where everything’s fine and when things are normal, they’re normal. It’s great. We do things, we give Steven the best quality of life, but his life has a very different meaning than it did initially. And that bottom picture of he and I together, that’s out in Salt Lake City together.

(15:45):

So our family has incorporated his special needs in our family lifestyle. But it’s hard. I won’t say that. It’s very easy. It’s been traumatic for everybody. We don’t take any day for granted. But that’s for sure. We appreciate every single day in looking ahead. I take one day at a time. I don’t look too far ahead because we don’t know what the future will hold. We know that Steven is very vulnerable in many ways, and so we just appreciate every single day that we have and make the most of it. And that’s what we committed to doing from day one. I advocate because I see the importance having been able to be a part of a lot of this advocacy work for expanded newborn screening and then expanding my advocacy into rare diseases as a whole, I see how it impacts families. I know the families who’ve lost their children and some of these conditions, unfortunately, the health issues that do come up, they still lose their children.

(16:55):

So we are that opportunity for researchers to continue looking at understanding, looking at the Stevens of the world, why did he go into crisis at three and a half and what are we doing for somebody like Caroline and how is she progressing and doing so well? We are connected with other young women and of young men who are in their late thirties, early forties living with IVA. They have children, they’re living very normal lives. And early detection really played a role in that. But in looking ahead with newborn screening, it has been for me, I was what I have learned as a lay layperson and not a professional in the field. It has been described as one of the greatest public health initiatives available for people. It impacts every baby screened from day one. And for those who get a normal screen, they go off and live life and never look back. For those who are that one in whatever number. For us, it’s one in 250,000 is the average incidents.

(18:10):

It is life-changing as you can see looking at my children. You can go to the second slide please. And we have made great strides in newborn screening over the years here in the states and internationally. Steven’s story has been shared internationally by many of the top people here in the states who have been working on newborn screening expansion and sharing his story and economic levels and different countries and in different areas of countries do play a role and even here in the states as to how that expansion is happening or not happening. But sharing Steven’s story globally has been important to me to help everyone because to me and everybody who is familiar with this, every baby deserves that fresh early start, that healthy start in life. And as I mentioned that health and human Services committee that was started here, it’s done phenomenal work.

(19:19):

It was disbanded in April under the situations that our country is going through, which is a critical issue for us because it is the platform and the foundation for states to help states expand their programs and develop their programs. And now it’s going to make it very difficult to know which conditions to continue adding. And it’s a group of people who are professionals who know it, and not every state has the resources to make those decisions. And so we’re going to have some delays in how the progress is made with newborn screening for the states. But again, people who are committed to it are still working at it. Steven’s story is still being shared. When Rachel asked me to do this, I was very happy to because we have a family in our metabolic organization who they’re from Pakistan and they lost children and nobody really understood what was going on.

(20:22):

And they finally connected with our organization. And even with Steven’s story being shared by the professionals going around the globe and these family incidences, they have been able to expand screening in some areas of Pakistan as one example. It’s not the public health system, but it is privately. And that is where if you see newborn screening happening around the world, it is happening at private levels and public levels and then systems. And in order for it to sustain itself, it really needs to be picked up by the whole system. But in areas of Pakistan, there are improvements as the hospitals are doing it because families like us help identify it. And so it is a start. It’s not the best, but that is how a lot of newborn screening was happening here in the States. There was, when Steven first got sick, somebody handed me a newspaper article that there was a lawsuit in one of the Pennsylvania because a child was missed at one hospital and went through a similar situation like Steven’s.

(21:37):

And so all the hospitals around started privately expanding newborn screening on their own and sending it to their state labs. But it was not expanded. It was not mandated in the state yet. So that has changed, and it’s not the best way, but it is better than nothing. And it’s better to capture what babies they can early on and hopefully each country that starts out like that, takes the knowledge and the information and finds ways to develop it into their public health system. And it should not rely on the economic status of any country or any state because we said, my feeling is no baby’s fate should be determined by where they live. They all deserve very the same healthy start in life. And in a world where medicine, healthcare is always an issue with costs and so forth, I have had to testify and talk about cost effectiveness.

(22:49):

And I always, you can never give a dollar sign on the cost of what happened to Steven. It is a lifelong process for us. We deal with so many medical issues. We always grieve what we lost with Steven, but I say, but the dollar signs when I know that sometimes you speak on these platforms and dollar signs do get people’s attention. I said, the cost of treating Steven and caring for him over his lifespan is astronomical and everybody’s paying for it. So when people want to bring up about cost effectiveness, I point that out. And so that is why I continue to share his story, to share Caroline’s story and see the difference that it can make. There is an article, a paper that was put out last year, and you can see on my slide at the bottom that it is called The Current Status of Newborn Blood Spot Screening Worldwide. It was a comprehensive review of recent activities. It’s a good read. It really talks about what’s happening globally and where things are with newborn screening. So I highly recommend you take a look at that. Next slide, please.

(24:17):

So I will continue what I do, I am the Virginia’s volunteer ambassador for Nord and the advocacy liaison for the Organic Acidemia Association. And that is our metabolic family organization. We support each other families, we have family conferences, and we are connected with people all over the world who have children and family members with these organic acids. And as a state ambassador, I advocate for all rare diseases because the needs are similar. A rare disease is a rare disease and the more we learn, the more we have a lot in common. And there’s the link on that slide. It was a recent story, a new story that I did back in June right after Steven’s first surgery. It tells it’s well done. It talks about our story, the importance of the Health and Human Services Committee and its work and it gives a good background to newborn screening and what the future might look like. So I will continue to do those things and continue to advocate. And with each hospitalization of Stevens, there’s another medical student and resident that learned something about these conditions. So I am thankful and delighted to be able to share this with you here today. So thank you.

Rachel Jones/NPF (25:52):

We are so thankful to you for sharing your powerful story with us. Let’s go now to Nakita.

Nakita Laing/African Genetic Counsellor Association (26:03):

Great. Hi. Am I able to share a slide?

Rachel Jones/NPF (26:08):

Yes, you should be

Nakita Laing/African Genetic Counsellor Association (26:10):

Great. Wonderful. Thank you. John, I just want to say thank you so much for sharing your story. That’s really inspirational and you’ve really set the scene well for me to talk now after you, I’m just wanting to start my slides. Sorry, checking that I’m audible and you can see the slides.

Rachel Jones/NPF (26:38):

Yes, we can.

Nakita Laing/African Genetic Counsellor Association (26:40):

Wonderful. So I’m Nikki Ang, I’m a genetic counselor as Rachel. So kindly introduced earlier and given this title. And I must say there is so much literature that I’ve been spending days and days looking at a lot of the different ways to think about things. So there might be a few slides that I skip over, but I really just thought I would start with some definitions following on from Janna’s story about why newborn screening is so important. What is the role in genetic counseling in that? And then speaking a bit more globally, and I wanted to just pick up on the disparities between first world and third world. I mean genetic counseling. I don’t know if you guys have spoken a lot about this through your program, but it really is, I mean it was defined many years ago, but it’s the process of helping people understand and adapt to the medical, psychological and familial implications of the genetic contributions to disease.

(27:43):

So it really is about interpreting individuals, families and medical histories. It’s about educating, it’s about possible facilitation of testing. There is obviously a psychological component to all of this because I mean you can imagine getting this kind of diagnosis can rock people’s worlds and you need to take that in mind and keep that in mind. And we try and promote informed decision making and adaptations to the conditions that get diagnosed within families. So it really acts as this bridge or interplay between a healthcare professional like your doctors or your pediatricians versus psychologists. So we’re somewhere in the middle between that. And we act as that bridge between the science and the families helping to help individuals understand the science of genetics, genomics, and help to interpret the medical implications of conditions that are very personal. So the other definition that came in the title of the talk was about prenatal screening.

(28:55):

And I haven’t actually based a lot of this talk, but Jana very nicely spoke about doing prenatal testing, which was prenatal diagnosis. So I thought I would just highlight the difference between prenatal screening versus prenatal diagnosis. So the screening methods to identify risks of conditions, it’s usually by ultrasound or a blood test of the mother. And it’s like I mentioned earlier, a risk of something happening and it allows the option to undergo diagnostic testing if a high risk is identified. So one of these examples would be if a individual is pregnant over the age of 35, and one of the tests that one might be able to perform is something like prenatal testing, which is quite universally available throughout the world, but less available in developing countries such as South Africa, whereas prenatal diagnosis is quite different. That is the invasive procedures like a amniocentesis where we get to make a diagnosis in a fetus before they’re born to allow parents to potentially make certain decisions about their pregnancy or to allow medical teams to prepare for early intervention as Jana nicely spoke about with her daughter. And that’s sort of what I want to highlight there.

(30:20):

I don’t think I really need to speak about this after Jana’s talk, but newborn screening really is a public health initiative and service, and it’s about testing for serious treatable disorders to allow for early intervention. And it’s not just the blood heel prick test, it also involves in a physical examination, including looking at doing a hearing screen or pulse oximetry within the first couple of hours or days of life. We focus on congenital disorders and just to give you some definitions of what that is, because there’s always confusion about this term, it refers to abnormalities in the structure and function present from birth. Sometimes it’s immediately obvious something like a cleft lip, but sometimes it’s not like IVA, so inborn errors of metabolism or other rare diseases you might only see after hours, weeks or months or years, but by the time they present progression may have already caused irreversible damage, intellectual disability, physical disability, or even premature death.

(31:28):

And that’s the premise of newborn screening. We really want to avoid that from happening. We want to treat people while they’re still asymptomatic before the disease manifests in order to arrest the disease progression. Why does it matter? I mean, I don’t really have to go into that after having the story before, but I think NextGen, I was saying sometimes we need to think about stats and things like that. So the WHO spoke have mentioned their sustainable development goal three E, and they’re saying that they want to end preventable deaths of newborns and children at the age of five with aiming to try and get it at least as low as 12 per thousand live births for neonatal mortality and under five mortality to at least as low as 25 per thousand births. And unfortunately, we are not sitting there so globally we’re not doing too badly, but it’s still higher than we would like it. USA is doing very well with those stats, but look how badly Sub-Saharan Africa is doing. Okay, we are sitting at 27 per thousand neonatal mortality rate and we’re sitting at 68 per thousand under five mortality rate. South Africa’s not doing too badly with their neonatal mortality rate, but there can be some improvement with our under five.

(32:59):

So focusing a little bit more on newborn screening, we know that it started in the 1960s with the father of newborn screening called Robert Guthrie who invented the Guthrie cards and it started with phenol nuia and he did simple screening you using a bacterial inhibition SA to estimate the concentration of phenyl alanine in the dried blood spot used from a heel prick. And the treatment is simple, having a low phenyl alanine diet to decrease the amount of that in the bloodstream. And if we able to do that from early on, we can prevent seizures, prevent the stunted growth, developmental delay, and intellectual disabilities. And it’s things, it’s simple, it’s a restrictive diet, a medically restrictive diet that eliminates high protein foods. So we avoid meat, eggs, dairy, nuts, and other high protein foods, but we go with lots of fruits, vegetables and other nutrients. So it’s really something that we can do.

(34:03):

We then saw in the 1970s that we started to expand this, we included conditions like congenital hypothyroidism, congenital adrenal hyperplasia and cystic fibrosis. And in the 1990s we managed to make the technology so much better. Tandem mass spectrometry came along and it led to being able to test for a large number of conditions simultaneously, which has really been one of the reasons we’ve been able to expand this testing over the years. I’m going to focus a little bit on congenital hypothyroidism because it really is a condition that is one of the hallmark conditions. Why to motivate, why newborn screening is so important. So another name for it is cretinism, not a nice name, but it’s a serious condition. We know that the thyroid gland is essential in energy metabolism, growth and neurodevelopment. When the thyroid hormone is underactive, we don’t get enough thyroid hormone. We know that that can lead to many, many concerns including congenital heart disorders, renal problems, growth, failure, intellectual disability. And it can start from really, really early. We need to start treatment within the first two weeks if possible. And usually you start seeing the signs gradually over the first six weeks, but it really does depend on how severe it is for that individual.

(35:38):

It is common. It’s around one in 3000 to one in 4,000. So in South Africa, I don’t know the stats in the US but that equates to about 250 babies every year with this condition. And I’m already mentioned that it would be important to start within two weeks of birth. And so it’s ideal to do that newborn screening on day two to four of life because sometimes you can get falsely elevated levels of the thyroid hormone due to maternal effects post-delivery or if there’s a preterm lymph delivery or something like that. And of course every single newborn screen that comes back positive requires diagnostic testing or follow-up testing if there’s a positive screen. The thing about this condition is it’s so treatable. The treatment is simple and cost effective and cheap. I think I was trying to look it up in the US and it equates to around $4 in South Africa, it’s even cheaper than that.

(36:36):

So it really is something that we can make a massive difference on. And we do know that if we’ve left it untreated or there’s a late diagnosis that there is that irreversible damage that and requires lifelong care for somebody with those deficits. So there has been cost saving articles and they speak about for this condition that for every $1 spent on the screening all the treatment together, you save $2 90 basically. So really showing how cost effective it can be. Janna mentioned how we’ve expanded the number of conditions we’re testing for, and she mentioned the uniform screening panel that has been published, which encompasses about 35 core conditions, which is users biochemical screening and sometimes genetic screening. There are 26 other secondary conditions which can be identified unintentionally by screening for all those core 35. I mentioned earlier that it needs to also include looking for congenital heart disease as well as hearing loss as well as their top to toe physical examination.

(37:42):

But it really, these screening programs have shown improved health outcomes and financial benefits as mentioned. So it’s just a brochure that I’ve got online from baby’s first test and it speaks about 4 million babies being tested every year and it’s around 12,000 babies which get diagnosed and treated and that otherwise would have suffered enormous consequences. So what is the role of genetic counseling in newborn screening? So we know that there are many conditions that we are screening for in the newborn screening panel that are actually genetic and they require follow-up genetic testing to confirm that diagnosis. But not only do we have the possible serious diagnosis in the family when someone screens positive, there’s also implications for the future for children, future pregnancies, but also other family members because we now need to start thinking is it a recessive condition? Could there be siblings of the parents that could also be carriers?

(38:45):

How common is this condition? So sometimes these newborn screening come back positive and it’s not because the child has the condition, but it’s actually because there could be a carrier for one of these genetic conditions, but it also requires follow up. And all the while through this process of diagnosis, the genetic counselor tends to be an important source of support and education and helping parents navigate through this journey, which can be very stressful and worrying anxiety provoking. This is a article that was published quite some time ago, or sorry, 2023, about experiences with genetic counseling when people had newborn screening for cystic fibrosis. And you can see, well firstly, half of the participants actually indicated that they wish they had had their newborn screening positive result come from a genetic counselor and others indicated that early access to genetic counselor would be helpful. And you can see by the blue line it’s individuals who had genetic counseling as part of their process versus the orange line for those that did not.

(39:51):

And you can see that those that had a genetic counselor involved in their process had less mean sadness and less anxiety throughout this time process of a positive newborn screen all the way through to confirmatory testing until the end. So it really would be ideal to have a genetic counselor really early in the engagement with a newborn screening process and it can help individuals and pediatricians also help them direct resources to families. This is another paper published not too long ago, actually, I think it was this year, and it was some quotes of people who had undergone newborn screening for various different conditions. And I’ve just included a few from the paper about how they thought the genetic counselor should be involved. This individual said, I think in an ideal world it would be either the specialist or the genetic counselor calling us first, not even having the pediatrician share that.

(40:55):

I know it seems like a very common theme that pediatricians share the news in my mind because when you have the questions and it’s calling who can’t answer the questions, then it’s a little awkward. So they kind of were saying that sometimes that when they got a call, sometimes their pediatricians would indicate that they don’t know anything about the condition because most of these conditions are really rare that they would’ve appreciated someone with a bit more expertise calling them with the results this individual said. But then she hands us this folder and the folder had every single piece of paper that she had talked about for us to take home to read over. And I can’t tell you how much of a comfort that was for the next couple of days, maybe weeks, just showing how sharing resources, making sure people don’t feel alone was very helpful.

(41:46):

I’m going to not read all of them because it’s going to go over time. And this one individual said, they also shared that in my first appointment about some adult patients that had POEs and even just hearing real life stuff was really helpful. I remember them saying, we have an adult patient with POEs that’s a lawyer. Even just hearing those pieces, again, some kind of anecdotal stuff was really nice. One of the individuals said that the genetic counselor here, this last quote was very nice and she was very, very informative, but they did give them a little bit of false hope because she told them that she’d worked in the state previously and they’d just implemented the newborn screening and that there were lots of false positives. So in that instance, the genetic counselor had given them false hope and that wasn’t helpful for them.

(42:32):

But I think overall the majority of individuals have indicated how helpful a genetic counselor has been in these scenarios. I’m going to change tack a little bit and just speak a little bit about expanding these newborn screening panels even further than what they already are. And we really need to think about what kinds of conditions we need to think about screening for and in what circumstances. So a lot of the screening is based on this early classic screening criteria that was published many, many years years ago by Wilson and Yung, and they spoke about these 10 criteria that need to be fulfilled for a condition to be included in a screening test. And they say things like it should be acceptable to the population, there should be a treatment and they should be able to be diagnosed properly. We should be knowing about the natural history.

(43:32):

And they speak a little bit about cost finding, being economically balanced. So some of the conditions that are on these panels don’t fulfill all of those conditions. So as the technology has improved over the years, we’ve been able to test more and more, and especially now, including genetic testing in some of these newborn screening programs has really upped the game a little bit. So some of the conditions are these traditional conditions with high benefit of early detection, things like PKU, the IVA and some conditions have an unclear benefit either because they’re not particularly harmful in that they don’t cause too much of an effect. Sometimes there’s no treatment. Sometimes it is beneficial to know about it, but the treatment carries significant risk. For example, with krabby disease, the only treatment is a bone marrow transplant, and then sometimes we’re including later onset conditions, not in the newborn period, for example, something like Pompe disease, which could even developing much later in life. But we do know this big debate, is it just about the newborn and about the child or should the family and societal benefits also be considered when we are thinking about adding new conditions to these panels?

(44:56):

There has been a huge study and there’s a lot of knowledge out there about parents saying that it is actually helpful to know about some of these conditions even if there isn’t an immediate treatment. And so it’s just been in the literature a bit of a debate, which has been quite interesting to watch. I want to move a little bit globally to say we need to think not just the USA and the first world countries. What about the rest of the world? Jonna mentioned Pakistan. This first map that I’m showing here shows that the majority of the countries of blue have comprehensive programs for newborn screening and some of these countries in green don’t have much going on. I’m going to delve more into Africa in a bit. The second image, I’ve really struggled to find the source document, but it’s from 2016 and this image actually shows the percentage of individuals or children that are being screened. And you’ll see North Africa is quite well represented except it’s still red, less than 10% of the population, whereas the dark blue has majority of the population being screened. So there’s quite a lot of work to still be done and it just shows you the disparities in Africa.

(46:19):

I wanted to show this image because this is from the paper that Jana also mentioned. It is a fantastic read. I’ll show some more information from that paper too. But the bottom picture here, you’ll see what we typically know as the map of the world, and this top image here shows you what it would look like if we look at the total population numbers. Okay, so this is the amount of people actually living in those different continents, and this middle picture shows us the amount of births per year. So obviously Africa having a huge amount of births compared to the rest of the world. So in Africa, around 30 million babies are born each year, and newborn screening is extremely limited. I’m going to touch on a few programs that have been going on, but it’s very, very minimal, less than 1 million a year. So if we take a closer look at South Africa, we’ve got a very disparate healthcare system.

(47:19):

It’s got a dual healthcare system. We’ve got 61 million people in South Africa and a huge amount living with HIV. And actually we have I think the highest numbers for individuals on antiretroviral treatments, and that’s been taking over the majority of the resources in the country. The state healthcare system takes care of 84% of the population, but there are limited resources and people are extremely understaffed. I’ve shown a picture of the top of what a typical clinic possibly looks like, and this was actually quite a good looking one. They don’t all look like this. Sometimes it’s a mobile truck that people go and have their nurses or doctors and probably not doctors see them in the private. It’s usually self-funded. You pay for your medical aid and medical aid will then assist with paying for certain things depending on what your plan is, and they only take care of 16% of the population.

(48:16):

So what about newborn screening in South Africa? This is an article that was published last year looking at the past, present and future and basically bottom up, I mean summarize it. It’s extremely limited. We’ve had numerous pilot projects starting from the 1950s all the way until a couple of years ago, and none of them have stuck. We had a very successful program for congenital hypothyroidism in the Western Cape, which is one of the provinces within the country. But the funding was withdrawn and it’s no longer available. The only thing that is available is testing in the private sector and it’s at an individual’s own expense. And I worked it out, it’s probably at the value of around $350 equivalent in America. So it’s quite expensive. And so we are only testing around 0.5% of all births in the country. So the challenges that we’ve identified in our country is about trying to move forward, what kinds of conditions should we include?

(49:21):

Because unfortunately in our low resource setting, the feeling is if you can’t treat it, potentially you shouldn’t be diagnosed doing the testing because that in terms of health resources, they want to spend most of their time on conditions that are treatable. That will have substantial impact, especially when we have no testing at all. So trying to think about how we prioritize. In our country, the maternal services are also pretty limited, so babies are discharged six hours after they are born, and so we don’t get them back often to be able to see them again within that 24 to 48 hour period, which would be needed for newborn screening. So there is this concern about sample collection because the congenital hypothyroidism study was all those tests were all done on cord blood, whereas normally we do a heel prick. So what kind of sample, what kind of timing? What is the methodology that is needed? There’s lots of those technical challenges. We have this extremely high rate of loss to follow up. We have very inadequate resources. There’s this massive lack of accountability and this poor logistical pathway. How do people communicate taste results? How do people access genetic counselor? And unfortunately a lack of political will and funding.

Rachel Jones/NPF (50:49):

Nakita, I’m going to jump in here now simply because this is a brilliant presentation and we are going to be able to share it with the journalists, but there are a couple of pressing questions and we only have 10 minutes session unfortunately. But I wanted to direct those two questions and then sort of wrap things up. And so I want to ask Simon ach, I’m assuming this question is for Jana, so would you ask your question?

Simon Spichak | Being Patient (51:23):

Yeah, so I’m Simon. I’m a journalist in Toronto. So I was wondering if there’s any social downsides to prenatal screening either in the US or other countries, like the risk of genetic or insurance discrimination, unwanted disclosure of genetic status to other family members who might not want to know, and if there’s any conditions in the community where it’s really contentious on whether to add something to the prenatal screening or not, where patients disagree?

Jana Monaco/Rare Disease Mom (52:01):

Yes, yes, yes it is. There are downsides to it as far as early screening. Some people don’t want to know, and even Nkita was talking about the late onset conditions. That’s another debate that there’s been a lot of debate on that. What I have witnessed, some people want to know, some people don’t. It varies. Some people want to know because they don’t want to have, it can affect whether having more children and other people are concerned about whether having that diagnosis will impact their healthcare going forward and discrimination. So there are all of those issues and there is not one perspective to look at. There isn’t one right way or wrong way to look at it. That’s what I’ve experienced. Nakita might be able to weigh in on that as well.

Nakita Laing/African Genetic Counsellor Association (53:13):

Simon, your question is it is big and there’s so many different ways to look at it. If you’re speaking about prenatal screening, I mean it’s a clinic I do every week where we speak about certain things and it’s highly personal. And I think that’s the most important thing is that everybody feels differently about these things. There are certain conditions that we will not perform prenatal screening for things like adult onsets, neurological disorders because we won’t allow potential interventions. One of the reasons why we offer certain prenatal testings is to offer the intervention of a termination of pregnancy. And some of those conditions are not eligible for a termination of pregnancies and each country has their own laws according to that. So I think that it’s a little bit difficult to answer in its entirety.

Rachel Jones/NPF (54:07):

I want to give no of Tini the opportunity to ask the last question. Are you there? I hope her microphone is working. So just in case she wanted to know, Nakita, are genetic screening services offered to pregnant women in rural communities in South Africa? And if so, what types? And she wanted to know about alternatives or referrals that could be offered to women who may be at risk.

Nakita Laing/African Genetic Counsellor Association (54:55):

So most of the slide that I ended on showed the word genetic services are in the country. And unfortunately we only in two out of nine provinces. So it means that there is a huge dearth of genetic counseling services and screening throughout the rest of the country. A lot of the obstetricians will. So doing an ultrasound screen is something that most women will have access to. They tend to get one scan for their pregnancies and then if anything is seen that’s wrong on the scan, that will be highlighted. And if there is a family history of something in the family that should also be picked up at a nurse level and then referred to tertiary level hospitals. I see that you were asking about ENI and with genetic screening is not widely available. So I suppose family history screening is very important. The amount of times we’ve managed to diagnose a condition just by taking a family history has been quite remarkable.

(55:59):

You might not always have invasive testing available, but one might want to think about other ways that one can screen for common conditions. There was one question around Africa and I didn’t get to those slides, but just to mention, I mentioned HIV, but with HIV in many parts of Africa, they do take dry blood spots to screen and that could be piggybacked on for newborn screening because we are taking it anyway in these prevention of mother to child transmission programs. So if we can just think creatively, we might be able to get on top of newborn screening in Africa as well.

Rachel Jones/NPF (56:36):

This has been an incredibly beneficial discussion from a storytelling perspective and also from a research perspective. I hope that both of you will be open to hearing from the journalists. They may want to get in touch with you for more information, for more guidance and advice. But in the meantime, I am very grateful to Nakita Laing and Jana Monaco for speaking with our fellows about this very critically important issue of screening and genomic counseling in the rare disease realm. So thank you both for joining us today.

Nakita Laing/African Genetic Counsellor Association (57:22):

Thank you. Thank you. Yes, always open. Sorry I got always open. Very happy to answer. Especially I’ve got overzealous and I have too many slides, so apologies from that. But welcome to share them and if you’ve got questions, get hold of me.

Rachel Jones/NPF (57:36):

Great. Take care. Thank you. Enjoy your evening, Nakita. Enjoy the rest of your day, Janice.

Jana Monaco/Rare Disease Mom (57:42):

Thank you. You too. Thank you. Thank you.