This Girl KAM with Jayne Gershkowitz

Liv: Hi, Jayne. Welcome to This Girl KAM. It’s lovely to see you.

Jayne: Thanks so much, Liv, and thanks for having me as, as we said earlier, I’ve been listening to these podcasts, and the women you’ve been interviewing are remarkable. It’s an honour to be included amongst them. So thank you for having me.

Liv: I’m excited to have you, and thank you for taking the time to come on. I do appreciate it.

Jayne: Absolutely.

Liv: So let’s get into this then. Jayne, please tell me a little bit about yourself first and foremost and a bit about your personal and professional story to date.

Jayne: Sure, so I am a native Bostonian. That means I was born and grew up just about seven miles north of Boston and lived there all my life except for college and my first job after college. And until about 16 and a half years ago, when I moved to New Jersey for a wonderful career opportunity, my background: I’m the youngest of three and have two older brothers. Some colleagues said, “Two older brothers? That explains a lot”, but I’ve had an unexpected background for somebody who always knew what she wanted and when she wanted it and went for it. And then life happened. And as we’ll probably talk about later, there were some sliding doors, but the joy of growing up at a time when family neighbourhood community was just a part of who you were a family was close by. It was a wonderful way to grow up. There was no social media, and I remember many things about technology at that time that people would probably roll their eyes at today. But it was a simpler time. Growing up as a girl, obviously, in a boy’s world, it was interesting to see how that evolved as I got older and through education and then going into the work world to be able to look back on all of the changes that there have been has been remarkable. At the same time, looking at some of the changes that have been and are no more is pretty frightening for women.
I had my college experience at Syracuse University. I was a double major in newspaper journalism and English literature. One was for what I wanted to do, and the other was for something I love to do: reading. I always felt if I went to college and didn’t have a major in literature, I’d never get to read for pleasure again. And that’s something that has stayed with me my whole life. I’ve been a very strong reader, and it’s the essence of communications, which is very important to me.
My husband, Bruce and I live in Lambertville, New Jersey. Now, we have two adult children, one in the Berkshires and one in Miami. So we have two wonderful adult kids who are very different and pursuing their own careers and opportunities. I love where I live now, and we’ll get into this a bit more, but it has started bringing more balance to my life.

Liv: Talk to me about when you were that little girl and you always knew what you wanted to do. Did that feed into your journey then into biotech and where you are now?

Jayne: I’m as far from it as I ever imagined. I was a newspaper journalist during my college time as an intern and had very strong professional journalism experience. Then, my first job was as a feature writer for Metropolitan Daily.
In Syracuse, I was doing exactly what I always thought I wanted to do, and remember, this was the time of Watergate. This was when my breaking journalism was just; you were stirring the pot. You were trying to understand all the world’s evils and want to make it all right. And it was exciting. It was a very exciting time. I was in print journalism, not broadcast, because back in that day, print was more serious. And it was before any of the technology we have now. And I loved it. And I only did it for about a year, which was surprising for several reasons. One was that I finally decided I wanted to move back to Boston. I had it with the winters in upstate New York. And when I moved back to Boston, there were only so many newspapers in town.
You had some of your local weeklies, but there just wasn’t anything for me at that time; a lot was going on in corporate communications. And that was booming because at that time, in the late 70s, was the era of high tech followed by biotech in Boston. And every ad in the classified section were all high-tech, and I was not a science person. I was not a math-oriented person. I was an English major, and the idea of working in a company that today we would call STEM-based seemed very foreign to me. And so I did some editing, and then I got a wonderful job for a corporation that was a very niche world. And that was international business insurance for Fortune 1000 companies. So, it was one of a group of four insurance companies that identified, minimised, and then underwrote the remaining risk. In major corporations worldwide, I was brought in to do internal communications and to bring their internal comms or internal magazine up to another level. We then also worked on collateral marketing materials. sales materials, and things of that nature. We did some PR, and we eventually renamed ourselves corporate communications. And we were very much a women’s department and a male company, no question about it. At that time, there were four Women in management positions: myself and my boss, my mentor in corporate communications and then in HR and training. That was it. All, the majority of women were secretaries. It was a very different time, and I worked there for several years until my daughter was born.

Liv: I’m fascinated to learn about when you were in that leadership position in such a male environment. Let’s talk more about that.

Jayne: Absolutely. It was a very interesting time. The ultimate for me at that time was when my daughter was born, and I felt I wanted to return to work after six weeks – that’s all you had six weeks – something less than full-time.
This was before job sharing. This was before women had more flexibility. And my boss was supportive of it; whether it was three days or four days, whatever it was, she was willing to be flexible. At that point, I was the Next in line; she was the vice president, and I was, I don’t remember, senior director of corporate communications, but she had to go to the CEO. And she said to him, this is what she’d like, and he said no. It’s full-time or nothing. I’d been there seven years at that time. And she said, then I think we’re going to lose her. And he said, “Well, that’s a step back for women’s lib!” In all fairness, that was 1985, but still, it was okay; I’m not going back! I stood my ground and was home with our daughter and then with our son. And when our son was a toddler, I started doing some agency work on the side, a little project work, which I loved. And I got me back in working with a graphic designer from New York City and trying to find some clients in the Boston and Greater New England area.
Eventually, I wanted to do something a little bit different. I did take some marketing master’s level classes when I was at the insurance company, and I enjoyed that. One of the things that I learned at that time, and that stuck with me, was that marketing and communications and everything that goes along with marketing. It is not just for-profit entities. But nonprofit entities were starting to see the value of marketing, promotion, advertising, partnerships, and things of that nature, which, up until that point in time, anything that smelled of business was dirty to nonprofits because they were so pristine in their mission and saw themselves as a different world than the for-profit world.
And I started working at children’s museums. It was a pair of children’s museums outside Boston, and I came in as their marketing and promotions person. And, first of all, I loved the environment. It was so exciting, and I particularly loved it. It was one of the very first science discovery museums in the country. And there we go again. Science. That was not my thing, but I started to understand and learn different aspects of what they demonstrated in the hands-on museum for children. So that’s at my level. But what I was able to do there was help with the newsletter and bring that up to a different level of literacy. It was always professional, but it could be the next level of professionalism. And I helped shape the rental program and different marketing projects to bring people and the community to the museum and vice versa. I loved it and did grant writing and brought in grants. And I enjoyed that work, and my kids loved it. My husband would come to pick me up. They’d say, “let’s go to mummy’s museum.” They thought it was theirs because that’s where I work. But, it taught me that there was real value in taking a business mindset and strategy and applying it in a way that could be comfortable for people; these were scientists and exhibit designers. This wasn’t their area. And it showed me that you can marry those two things. And I enjoyed the work very much. There was not a full-time opportunity there. And frankly, as many people today, we need health insurance. My husband was self-employed, and we always had health insurance through his business through a businessman’s association, which started to fall off at that point in time.
So, I went on to become full-time director of marketing and communications for a very large social service healthcare agency in Boston. At the time, there were 21 programs as part of this agency. So, essentially, I had 21 clients for marketing and PR. Still, I also did program development, community work, fundraising board development, and sort of everything in a nonprofit. I was part of the management team and was there for eight years, and I loved it. It was very challenging at times. There was a lot of work. And what it often came down to was asking to edit that before it goes out, asking to help work on this grant because she’ll get the writing right. So it was not just my work, but it was others as well. And again, what it showed was the importance of communication, and I work with people with far more degrees than I had and people with tons of experience in their areas, whether it was home health care for seniors, mental health, adoption, immigration, or just a whole range of things. But what I got to understand was the community’s needs.
Why were they coming to a social service and a health care agency? And how did we tell their stories? We started developing a very nice annual report program from one year to the next, which was different for nonprofits then. And again, it just showed that underpinning everything is the ability to communicate, the ability to give people something to read so that they can understand where they’re at and develop programs and services. That will help a community be educated and empowered to support itself. Whether it’s for an individual or family, whatever it might be. I loved that work, but what was very interesting was around that time I was there, the whole notion of genetic diseases was becoming more mainstream. And the idea of screening for carriers of genetic diseases was also becoming more mainstream. And I worked at Jewish Family and Children’s Service. So, this was a large non-sectarian agency. And in that system, in the Jewish Family and Children’s Service system, it was the fifth largest in North America. So, we had an extensive program going on. And there was a biotech company, a pioneer biotech company in Cambridge, that came to me because they wanted to understand better how people of Ashkenazi Jewish background might be at a greater risk of certain genetic diseases. How could that community be reached and educated, and how could that community be taught about this health risk? And particularly when that community was increasing because this was when the doors from the former Soviet Union were opening and allowing people of Jewish heritage to emigrate. And people were being resettled by Jewish family and children’s service agencies around the country. And they were coming to the major cities. So Boston was one of the cities that many people came to, along with Philadelphia and New York, of course, and Cleveland, Los Angeles and Chicago. Those are the biggest cities that people came to. So, you had people with a different cultural mindset. They might have had biological similarities to other Jewish people, but they certainly didn’t come from cultural similarities. They weren’t so ready to believe they needed blood work taken to be tested for something they didn’t understand. They weren’t necessarily comfortable with the idea of institutionalising their health and things of this nature that you can imagine. We had very interesting conversations because marketing to any key audience sounds easy, but it’s only easy when those people are already part of a network; when they’re on the fringe of a network, it’s tough to reach them as part of the general public.
So I did this work, and we could at least get information in both Cyrillic, the Russian language, and English into the resettlement centres and have the resettlement counsellors try to explain in the context of healthcare in the United States, some of the things that people should consider when they’re establishing how they’re going to receive their health care. And, of course, many of the people coming in were receiving public benefits. Still, when the idea came, there was the need to reach the community and different facets of the Jewish community about these genetic diseases that had a propensity to people with an Ashkenazi background. And so I was asked to become part of a consortium that included academics in genetic counselling and other disease organisations that had this. Genzyme, the pioneer that pulled everybody together to say, how do we teach the community about these health risks in a way they will accept? And so, we would meet regularly. Different articles were developed. There were different communication tools that were produced. And we eventually decided it would be great to have an educational program for the community. It would be focused primarily on the clergy because they were in a position to help people understand the potential risks of genetic disease when couples marry. And we worked so hard to have that program come about. And then, when the registration opened… today, you’d say crickets.
People just weren’t signing up. And it was a big disappointment because we had everything ready to go. Still, there were so many contacts made, and so many learnings, and soon after that, one of the organisations that was part of the consortium, National Tay Sachs and Allied Diseases Association, their executive director was leaving.
And I had gotten to know them through this whole process, and they said, “Would you throw your hat in the ring for executive director?” I said, ” I don’t know much about genetic disease besides what we’ve just been doing here. I certainly don’t understand the science or the biology of it. That’s not my thing.” And they said, “But you understand strategic planning for development, marketing, communications. And how to professionalise a nonprofit organisation.” So there it was! That’s how I became executive director for National Tay-Sachs & Allied Diseases! So I ran what, at the time, we always felt was the oldest genetic Patient Advocacy Organization in the country. I ran that for over eight years and, through that, got to meet the foremost scientists in genetics, particularly in lysosomal disorders, all the companies that were working in the space at the time, which were very few, with Genzyme, still the pioneer at that point. And that’s how I got my education. It was a steep learning curve. And the beauty was that I was not from that world. And so I approached things in a very pragmatic and commonsensical way, which was, I questioned everything.

Liv: Isn’t it interesting that when they first asked you to put your hat in the ring, your first response would be to say this isn’t my thing, and that’s not my thing. And, once they highlighted your suitable skills, only then could you see you were the perfect person for it. It’s just it’s so typical, isn’t it? For that female response to be, I don’t tick that box and easily overlook what you can bring to a role.

Jayne: Absolutely, and that’s where they were convincing to say, what you’ve done is what we need. We need to double our budget. That’s going to be your prime thing to double the budget. And then it was to optimise the nascent research program they had, and all of those things I worked on over the years, to make a significant difference on which so much more wonderful work has been done since.

Liv: So tell me about the work you do today at Amicus, and tell me more about the parts of what you do that drive you and keep you excited in the world.

Jayne: Sure. When I first came to Amicus, I came in as director of public policy and had been doing policy work when I was in National TASACs.
I was on the board of the National Organization for Rare Disorders. I was very involved in the umbrella rare disease space as well. I got a lot of learnings there. Just some wonderful people I worked with, taught me and were my colleagues on the board at NORD, and those were the heydays, right? This is when rare diseases were not something you read about in the paper. It wasn’t something that a lot of people talked about. It certainly wasn’t something that the industry was very interested in at the time. And rare diseases, you knew of them if you knew someone who lived with one. Still, it wasn’t something like what we hear about today, where we see these amazing narratives of families and what they’re living with and what they’re trying to do to raise awareness, increase research, get treatments into the clinic, and get treatments approved. It was not like that. Passion, the need, the frustration, and the love were all there then, but they weren’t the elements in the forums like we have today. When I went to Amicus, it was initially to work on the policy side and work with professional associations, which I did. I’d already had a fair amount of experience, and then eventually, within a year or so, advocacy also came to be part of my remit. And for me, it was all of these things I had been doing before, running a patient advocacy organisation, I could understand what people, what families, and what organisation leaders wanted from the industry. I had been at the patient organisation during one of the first two clinical studies. One was for gene therapy back in 1998. , that was remarkable. Another was for another clinical study that sadly did not work out, although there were people who felt that they were benefiting from an investigational treatment, but it didn’t meet its endpoints. How were they talked to as a community by industry? I had been listening to a lot of that. I had been listening to people trying to get their kids into a gene therapy trial; they had to help come up with the money to get their child into the study, and issues around access were just around where the field was going. But how did you talk to a community? How did you support a community in its educational efforts? What were the differences that people were looking for? But also, what was the devastation of a diagnosis? And where I was working, these were primarily, not all, but primarily children, very young children, whose families, whose parents and grandparents were getting these diagnoses of, not just life-threatening, but terminal illnesses. Which there was really no clinical work going on, and certainly, there was nobody working on a treatment or a cure, not on the industry side. And so, I took all of that with me. And when I became the head of advocacy and policy, I inherited a wonderful team, a small team, but one person who was a genetic counsellor, one person who was a nurse.
And together we were able to, with the support and the vision of our CEO, a parent advocate himself, with children living with a rare disease, we could start to shape what we wanted this thing to look like that was elemental to the company. And yet, it was very different at the time. Patient advocacy was not then what it is today. It wasn’t as widely accepted as a function of life sciences, which I’ve always advocated for. If it is a partner in drug development, if it is a strategic corporate function, and used and thought of as such, versus a support function, things will go a lot better. I just always believed that, and I took what I learned from where I had been. I took what my gut told me, and organically, we grew advocacy to be an integral part of the company over time. Internally, but especially externally, in how we developed our relationships with patient advocacy organisations, the leaders of those organisations, the members, individual families, and patients, we developed a patient advisory board program that was the first of its type in the industry, which is still going strong today. I am proud to say it has been a model for how other companies look at patient advisory boards and the important role they can provide. It was a very organic development of advocacy from what I knew from my experience and what my colleagues knew as clinicians working closely with medical affairs and with all the other departments to say, it’s the people living with these diseases who come first. We need to ask questions. We need to listen. We need to learn. And then what we need to do is give back to them what they’re telling us they would like or what they feel they need. And, I think that’s going back to my days as a reporter: you do your homework, you ask your questions, you listen, you hear what they’re saying, you try to read between the lines, come back to some more questions, and then you pull it all together. And you say, okay, this piece can help here, and this piece can help here, but what are we giving back to the same people? So if they’re telling us that they want more information on a specific technology and how to talk to their doctor, whatever it might be, we felt that it was our responsibility to help them get that information. Sometimes, it was literally producing a resource that they could take in their hand and bring to an appointment with a physician.
But often, it was letting them know that what they learned about their disease and their experience of their child’s disease and experience of their partner’s disease, was expertise. If you think back 17 years ago, there wasn’t a term called patient-focused drug development. There weren’t patient-reported outcomes, let alone patient-reported outcomes that were considered part of a drug development plan. These were the earliest days when if you asked somebody something, they were just so happy to share their experience and tell you what they were living with because they didn’t often have people ask them. They certainly didn’t have people who, when they shared, understood. That’s something that I pulled from working in the patient organisation. You’d have a parent call and say my child just got diagnosed with Sandhoff’s disease, and they tell me that they won’t live past their third or fourth birthday. What’s the treatment? Where do I go? Who’s doing the research? That’s really tough stuff. And yet you learn to listen to people and to give them what information you have. To share whatever support you can to bring them into your family as an organisation and, at the same time, manage the expectations you want them to have hope, even when they’re in essentially a hopeless situation.
And so you have to help them manage that. And what I learned from those families was, particularly, they were mostly younger than I was. They were having their first kids. My kids are already older. Grace. Strength, compassion, empathy, these are things that until you experience with a family like that, or unless you’ve experienced it yourself, you’re just not going to.
So, to me, that’s what’s so important to bring into a company that’s trying to make a difference in people’s lives. It’s not, and you hear this, and I’ve heard it in some of your podcasts from some of your other guests; it’s beyond the pill, it’s beyond, and it is a holistic approach, but it’s not saying that this piece of what we do is more important than this piece. Nothing is more important than that patient experience because they will tell you every step of the way what may not work for sure. But what might work, so they’re going to tell you what’s going to work in developing a protocol and assessments and what they’re willing to do, or what they’re willing to have their child do as part of a clinical program. They’re going to tell you what information they need to have to be convinced to have invasive assessments as part of a clinical study. They’re going to tell you what will make a difference to them if they take whatever medicine it is, yours or anybody else’s. The regulators may want to see one thing; the person living with the disease may want to see something you can’t necessarily have data for. What’s traditional in drug development is that the go-to assessments matter, but they may not matter the same way to somebody on a day-to-day basis because somebody may not feel that the function of a particular organ is changing. They may not sense that on a day-to-day basis, but they may sense pain, or they may sense that they have GI symptoms that they can’t leave the house, or they may feel afraid to walk across the street in the rain because it’s, the pavement is slippery, and they’re afraid that one step up to the curb might find them down flat next to the traffic. There are so many different ways to express that. It is a very big world of what you want to hear from people, so you hope you and your colleagues can start making a difference. In listening and understanding families and people living with disease and hearing in an advisory forum, what people are looking for and asking the right questions to get that information. It can be overwhelming because it’s both. It’s the science side of things and the science of drug development. There’s the balance with regulatory, but the other side is the emotional, the human side, and humanity. And that’s what keeps me, it’s what keeps my team, and it’s what keeps us humble. And as an industry, now that understanding the role of patient, caregiver and family, it’s helping the whole industry become more humble, and being more humble and having that different way of thinking about things can only improve who we are as an industry, and I hope to improve how people think of us as an industry in terms of credibility. Like any industry, we’ve had our bad actors, we’ve gotten our rough headlines and things like that, but if we come down to the core of why we do what we do. And we have the humility with it that we’re trying to help people. That will go a very long way.

Liv: Yeah, I agree entirely. Hearing you talk like that, every single thing you said made so much sense to me. And it fills me with hope. Talking about getting the balance right for parents and caregivers, providing information and keeping that hope at a time when things may seem hopeless really resonated with me.

Jayne: What I was talking about in terms of the role of advocacy has evolved very much over the years since I’ve been doing this. So what started as relationships and supporting a community, which we still do, and developing resources to help educate and empower people to make their best decisions for themselves and their families. That’s still very much at the core. But now we can take that, and the objective of always having patient and community insights help to inform what we do. We’ve been able to bring that all the way forward through market research through developing materials for approved products, to developing packaging for approved products, to different types of surveys and research that are IRB approved, leading to publications that are projects that represent that relationship between the company, patient organisation leaders. HCPs, and you’re bringing them together to work on these research surveys. You’re bringing them together to develop the surveys and co-author the publications. And that’s another whole level of advocacy. That’s helping the community recognise again the expertise they have and that they are leaders in this disease space and that you, as an industry, but as an advocate, you believe in them and in helping them build their capacity as much as to wherever they want to go with it. That didn’t exist many years ago in terms of publication. So what’s important to recognise is that advocacy is throughout the whole process.
It’s not just clinical. And it seems, at least through conferences, webinars and things of that nature, that there is a lot of patient engagement. Which is not necessarily advocacy, but a lot of patient engagement is focused on the R&D side. It is focused on people increasing awareness of clinical study availability, retention, et cetera, et cetera. But it is through the whole thing. And it’s beyond approval as well. And people who are connected to a company, particularly when a company’s in its earlier stages, R and D, and then they go all the way through. They become a bonafide commercial company, and being part of the growth of Amicus, it’s been an honour to be there and be part of it, but knowing that it evolves the whole way and that resource that there is, the relationships that exist, the insights that are there are, for everything. It’s not only around the clinical side of things. And we are continuing to see more and more of that. But I hope that we do because my theory is that a person should not feel that they are treated any differently early on in the process, as a clinical patient, if you will, versus a commercial patient, and that they are treated with the same level of care and respect. In rare diseases, you do see that. And in more common conditions and larger companies working on those conditions, we’re also starting to see it more there.

Liv: So you’ve articulated well how far we have come as an industry with that patient focus; what do you think is next in this world, and what are the things that excite you about what the future holds for that patient focus and advocacy?

Jayne: There are a couple of things. One is that there are more tools; there are now more mentors and buddies of people who’ve gone through this, so when you have families dealing with the disease, they’re much more proactive than they used to be. If they feel that what they need is not out there, they’ll start a foundation, they’ll start a research organisation, they will do something on their own. And the beauty of social media is that people can find others like them. When a family gets a diagnosis, there are 10, 25, and maybe a hundred people in the world who have the same diagnosis… Then that parent goes online, and they put the word out there, they’re very thoughtful in how they do it. And they’re very keen on which networks they start to tap into. And then those networks grow and grow. And all of a sudden, they’re connected to 249 other families. And now there are 250 families where they were told there were 10 or 25. And from that, communities are built, and they’re built online. And then there’s the resources that get put to it. And then there’s the ability to create more awareness and get attention, and all of a sudden, you start hearing about, you know, another disease and the family and what they’re doing. I think that a good part of why this is the way it is right now is the mapping of the human genome. The advent of social media and how it’s used, and those two things happened at the same time. When I said earlier that we didn’t have Facebook, we didn’t have social media outlets; you had chat boards.
Families would type a question or a comment, and it would go through the administrator to make sure it was all okay. Then, it would get posted. We had telephone chains back then because that’s how people connected. So it’s such a different world, and it’s happening faster and simultaneously. So what’s next there is that more of these families will continue to become their own organisation, their own force, and they are forces, they’re forces to be reckoned with. My hope is that there’s a level of organisation that is more collaborative as opposed to more fractionalised because, for regulators and academic researchers and industry, the more collaborative people can be on the patient community side, it just works better. Otherwise, you’re dividing your attention. You want to work with everyone who wants support, and there are so many pieces in the pie.
So, that’s one thing. But the other side is that those same patients, patient organisations and families are pushing the industry to be more collaborative. We are starting to see more pre-competitive collaboration, and I hope we continue to, whether it’s around registries or how to develop clinical study protocols. There are so many ways to collaborate in a pre-competitive way. I’ve always likened it to a scavenger hunt. Everybody gets the same clues. So you all start with getting information at a certain point, but then you all have to go in your own direction and figure out how you will get to the finish line. And that’s okay. I could talk a lot about this because we see it with research, as you see in rare diseases in particular, you see where there were one or two companies years ago, today, they may be five or ten. They all want the same information and want to do the same market research, and ask the same questions. Patient organisations are small. They’re often run by volunteers or a staff of one. They’re sometimes still being run from a kitchen table, and you’re asking them to be repetitive. They want to be very responsive to industry because they want that attention for their disease, but at the same time, they’re trying to help the families, they’re trying to give education, they’re trying to provide support, they’re trying to run a conference or webinars regularly, and there’s just so much that they can do, and often they’re living with the disease themselves, or a member of their family is. We need to think about ways that we can be more collaborative so that we can help the advocates advocate for themselves. So that they can do their best job for their communities and that we can leave some things behind or start working on things. And, one of your previous guests, Alejandra, said something about how we go to these conferences, and we’re all from different companies, and we chat, and we talk, we share best practices, but then the notion of collaboration is sometimes left there when we return to our own projects, companies, and silos. In rare diseases, we see that in advocacy, we see that a little less because we can share information. We’re not giving away any trade secrets, but when the patient is your main focus, your advocacy is and should always be above the product.
If it’s product-agnostic, then you can do that. When advocacy is embedded in commercial product, that’s different. And frankly, in my opinion, I don’t see that as true advocacy. You’re advocating for the product, but not necessarily for the patient. But I think that those are areas where we’ll see some growth continue. There’s another area I would like to see more growth happen. And that is in recognising patient leaders, in particular, as true experts in their disease and being given respect for that more consistently, not just in the United States and New Zealand. People in disease community positions of leadership deserve to hear what is happening on the research front in their disease area, that they can discern the wheat from the chaff, and that they should not be considered general public. I fully understand and respect the regulatory guidelines, but I do feel that they can evolve if we’re talking about true patient-focused drug development, whether that’s the FDA side of the pond or whether it’s an EMA side of the pond or elsewhere.
We could look at some of the guidelines and see how we can involve those so that they are as respectful of the true leadership role that patient disease patient advocates have that patient organisation leaders have because it is. I believe it is equal to the expertise of the medical professionals who may treat these diseases. But when you live with it, and you know almost every family in your country that lives with that disease, there’s an expertise that needs to be more highly valued and respected.

Liv: So Jayne, I want to talk more specifically about genetics now. Tell me a bit more about the advancing of genetics and your experience of the personal impact of that over the years.

Jayne: Yeah, advancing genetics is something that’s been going on for a very long time, and we see ourselves in a place where there’s so much more knowledge and understanding about genetics. But even as things started to ramp up around genetics, what I have been fortunate enough to witness is the real personal effects. And they’re in the past; at least there’s been much more of an understanding of genetics and what that means for people and healthy family planning and things of that nature on the medical and scientific side versus the layperson side. And so when the two things come together, there’s been some challenges. And I was fortunate to have witnessed, and hope to give some leadership to a couple of areas going back quite a while. So, when I think about the good of genetics, genetic testing and how people can gain information that can help them, their families or their families to have the most current information about their healthcare so they can live their healthiest selves.
It’s a wonderful thing. But it has, like I said, it has such personal implications. I’ll quickly go back to my experience when I was the chief executive at National Tay Sachs and Allied Diseases. That lawsuit evolved because there had been research that developed the work and the discovery of the gene that caused Canavan disease. Much of that work resulted from the effort of one geneticist with a strong interest in the disease. And as in rare diseases, typically a close alliance with the patient community, the families affected by this disease. Those families helped raise money for the research independently and in conjunction with some foundations and nonprofit organisations. They also literally gave their blood, their tissue. Urine samples, and they also donated tissues from their deceased children. All of this led to the discovery of the gene. In doing that, all of these families and these nonprofits were doing it for education, so people would be able to develop a carrier test and hopefully understand more about the disease and how it could affect healthy family planning.

What happened was the geneticists who had discovered the gene moved institutions. His work moved with him. And when he was at the second institution, the institution decided they were going to patent the gene. What that meant was ensuing carrier testing that could be done by a variety of labs, be they commercial labs or academic labs, would have to pay a royalty in order to do the carrier screening. And that indeed economically started to take the ability or the access away from some people. If labs didn’t want to pay that royalty, they would start providing the test. If they did, they needed to add to the test cost, which may or may not be covered by insurance. So it might’ve been coming out of pocket. And if you think back to the early 2000s, the cost of genetic tests, carrier or otherwise, were far more expensive than they are today, right? Those were the earlier days if you will. And, a gentleman who he and his wife who had two of their children had lived with and died from disease. They decided that they were going to take this through the legal system, and together with the Canavan Foundation and National Taste Acts and Allied Diseases, they sued the geneticist at Miami Children’s Hospital. And this was covered. It was the first case of its type to question the ethics of gene patenting. Who owns the gene? It received coverage certainly around the United States by all major metropolitan and national newspapers. What was so interesting was that Michael Crichton, in his book Next, which he published in 2006, most of the listeners will probably know, Michael Crichton is a very interesting medical science mystery-thriller writer, physician himself and this book Next, where he looked at the ethics of genetics. He looked at, what are the possibilities, the good and the evil, if you will but within this book, he just took things from today’s headlines. He took issues that were covered in the mainstream press that were happening: what were people doing to affect genetics? What were people doing to understand science? What were they looking at for transgenetics between species? Again, these were the early days, but even today, you can go through any newspaper, and you can find something that has to do with medicine, science, healthcare, genetics, etc. And he picked this up, and he had this as one of these inserts about the Canavan gene litigation. This was pretty amazing to all of us and to my friend, Dan Greenberg, the gentleman, the dad, and the advocate who worked to advance the research to help find the gene and then felt that the system was unethical in how they behaved. With this precious information of families and the children who had suffered from these diseases, the case was settled. It was a fascinating experience for me having to be very involved in discovery and all of that to understand it. And people looked at it, but again, the ethics of how the medical system and institutions think about genetic material, biospecimens and all of that, there are still issues around it. For me, what that did and how I have carried that through is understanding informed consent. And in rare diseases in particular, where it’s such a personal situation to try to understand a disease, what causes it, what’s the mechanism of disease, what’s the potential for treatment, certainly at some point, the potential for cure and how families and patient advocacy organisations. Academic researchers, institutions, and industry work together to try to get to go along that timeline toward treatment and cure, but informed consent is so important, understanding that partnership, and I think that another piece that I’ve taken from it is that the knowledge of the lived, or the knowledge that comes from the lived experience, the disease expertise, that the family, the person who has the diagnosis themselves, their caregivers, their parents, they are the experts equal to the researchers and the physicians, the healthcare providers, sometimes more so because they live with it. And we need to respect that. And I think that’s what we see today, these 24, 25 years later, is that we’re seeing the incorporation and the appropriate partnership with individual patients, individual patient families, and certainly with patient organisations in all that we’re trying to do. And when we see that may not be happening, I think it’s the role of the patient advocate to call that out.
So that’s one. Another area that I saw where genetic testing and the importance of it, particularly carrier screening, is so important and yet so personal is when a lab may not get a test correct. And when you were doing carrier screening back in the day, enzyme activity was the gold standard versus DNA. Both were, DNA was starting to get used more and more. And now, all of these many years later, it is more perfected, but previously, when it was just the enzyme activity was the gold standard, you had reference ranges for that enzyme activity. You still do. You have reference ranges for every lab test that’s taken. Sometimes, things could be on the border, and so if a lab interpreted that as a couple, they’re submitting their blood for carrier screening for a disease like Tay Sachs, for example, or Canavan disease, and the lab interpretation of the reference range says one person’s a carrier, however, the other partner is not, which means that you cannot have the disease. You may have a child who’s a carrier themselves but not with the disease. But sadly, we saw several families where that meant that they went on to have children that did, that were born and eventually, within three, six, eight months of life, were diagnosed with Tay Sachs disease.
There were a lot of ethical discussions about whose fault it is. Families felt that if they had the correct information, they could have built a healthy family in a different way. They would have made use of other tests that could have been done. They may have used pre-implantation genetic diagnosis, which was still in its relatively early stages then. But they were in the clear, so they didn’t. So some families sued for what was, is tragically, called wrongful life. You certainly have heard of wrongful death suits in medicine, but at the time, wrongful life. I don’t know how many cases there may have been before this, but there were a handful. Because, and what happened was these all got settled between the lab and the families seeking damages. The damages were being sought so they could afford the extraordinary and very complicated medical care and expenses. They would have to be responsible for not just months but many years of a child’s life. It could be up to three or five years, but in some cases, I certainly knew children who lived for nine and, ten and even more years, which is very unusual. So that caught the interest of some of the mainstream media here in the US, Including 60 Minutes, which we all know is… He does remarkable journalism, but at the same time, he likes exposés, and I remember being contacted by them to say they wanted to interview me about this situation because, of course, these kinds of cases did hit the papers, and I refused to speak to them. I appreciated their interest but said no, I wouldn’t comment on any legal cases. I wasn’t going to comment on these horrible situations that happen. So, genetic testing is very important. It’s very personal because it gives people the information to decide how they’re going to go forward.
But at the same time, in these earlier days, there were these mistakes, and they were very few, but each one was very tragic and dramatic. And. , we think of the ability now to do genetic testing for diseases such as Huntington’s disease. And there’s a big difference between a genetic test that the result is going to be predictive versus informational. So there’s so much that has come out in all of these ensuing years, but we can never really take for granted what it means for the individual. And even newborn screening is like this. So, with the results, there needs to be the right context of how the information is shared, which is why genetic counselling has such a critical role in health care. Genetic counselling is not practised worldwide. There are some countries where it’s much more prevalent than others. The United States is one, Canada is another, and there’s genetic counselling in the UK, of course. But in many other countries, it’s the geneticist, the physician, who is delivering the information, or their nurse. It’s very important for people to have the context and to understand, not just to get a written result or frankly, and I have known people where the lab just calls and says, we’ve got your test results and it’s left on a voicemail.
So that’s the importance of genetic counselling and for people to understand what it means for them now. What might it mean for them or their family to have later, and what does it mean for extended family? And that’s another really important piece, which is those genetic diseases, which, based on the mode of inheritance, can affect multiple people, not only in a nuclear family but in an extended family. Indeed, we see that with the breast cancer genes with BRCA1 and 2. So once somebody knows that, then what is their obligation, if you will, to share with family members so that they can then say I should be tested or my child should be screened or whatever it might be? And how do people relate to that?
I will never forget meeting a genetic counsellor at an international genetics meeting. Again, this was in the late 1990s or early 2000s. And it was part of the ethical and social tract of the post-recession. This person had done research with women who had found out they had the BRCA gene, and they then wanted And felt that it was their obligation to share the information with aunts or cousins or other women who potentially, based on inheritance, could have the gene. This was before video calls were available and when people were starting to really use cell phones, but people would call their family members or an organisation. And I had experience with this. We would draft a letter that the person, or the couple, with the genetic test result, could then share to say, I have had a genetic test. This is my result. This means the family is at risk, and here’s what you can do. I’m concerned about you and your health. Very interestingly, there would be relatives who would say, “Oh, thank you so much for sharing this. I did not know. It’s very important. I will be screened.” And then you have others who are like, “Not interested. I don’t want to hear about it. I don’t want to have the conversation. How dare you”. If a relationship is not so solid and this gets introduced, and it’s not of interest, or it’s too threatening to someone else, it has caused people to cut their relationships off completely. It’s just very interesting to see. We saw this with COVID, right? That’s where there’s available medical information or a medical action that can help someone or their family with their health. How people view it and when they don’t view it consistently, then it can really cause a rift. And we saw that with the diseases that I’ve worked on before, and I’ve been working on more recently. It’s a very interesting social phenomenon to look at; that’s where advocacy, I think, can help.

Liv: It shows why it’s so difficult, you can’t possibly replicate one way of dealing with something because there are so many different areas of complexity in every situation

Jayne: And that’s where patient advocacy comes in, frankly. So when you’re a patient advocate at an advocacy organisation or a disease or nonprofit organisation, you’re providing support and education.
You’re trying to connect people so they can learn from each other, and you can provide some counselling. When you’re doing patient advocacy within industry, you can’t provide counselling necessarily, but you can provide information. You can provide recommendations or references where they can find that patient organisation. Of course, you don’t make medical recommendations, but you’re giving information.
And to me, all of this comes back to what has been the foundation of how I have developed patient advocacy at Amicus and how we think about it, and the work that my team and I do at Amicus, which is about education sharing. It’s first about listening and learning from people living with diseases, with diagnoses, their caregivers, whatever, and saying, okay, I’m listening to you. I’m learning. I don’t live with it. So, if I’m not in your shoes, I can’t assume that I fully understand the experience, but I can listen and learn and take as much from it as possible. Then I can work with you, the community, the individual, the advisory board, whatever, the forum and the connections to say what are the knowledge gaps? What does the community know? What do they have, but what are the gaps, and where can we help fill those gaps with knowledge so people are as educated as they can be. They feel empowered to make the best decision for themselves and for their family, and then they can get energised to decide to what extent they want to advocate, not only for themselves but for their family.
To me, genuinely successful patient advocacy is when the individual, the family, the patient community, and the organisation can advocate for itself. With a very strong sense of where they fit in what we now call the ecosystem, right? So that to me is important. And again, patient advocacy, and I know we’ve said this before, is above product.
So it’s about having people know everything that’s available to them, and then they have the information they need to make an informed decision. And decisions are not right or wrong. They’re what’s best for the person, the family, the community. To me, the key role of patient advocacy, and that’s where I differentiate advocacy from patient engagement, which we hear so much about.
Patient engagement is more around the clinical research process; it’s engaging with patients to understand clinical studies and what’s available to engage with them at various time points. It’s really for the purpose of getting into a study, getting onto a medication, and adherence to that medication. Patient Advocacy can help share information that’s above product. So if a person decides that particular clinical study is not right for them, where there are others. We, as study sponsors, those of us who work for companies that are study sponsors, might be disappointed, but at least if we feel that person’s been given all the information and they’ve made what they think is their best decision, we have to honour and respect that.
I think that’s where and why there should be a difference in the corporate organisation of where patient advocacy sits. And we’ve talked about this as well. If it’s too aligned with marketing or commercial or business operations, then there’s a pressure for advocacy to actually be engagement for certain purposes. Advocacy can inform that work to help people understand patient experience, patient behaviour, and caregiver behaviour, but that’s where it stops. You have that firewall of these are all the kinds of things, that, that come together and it trickles into informed consent, it trickles into lay language, legal documents when you’re working with a patient advocate on the nonprofit side, on the disease side, and they’re a consultant for something or a patient advisory board. You’ve got contracts with these folks. The documents should be in lay language. They may be experts in their disease, but they’re not legal experts, and they should be able to read something, and it should be easy to understand. It should feel like it’s a very, just like any other communication. It’s accessible, it’s understandable, and they can act on it and not feel like they don’t fully understand what they’ve just signed. So that’s some of these connections from earlier in my career to things I’ve been doing in the last decade and a half.

Liv: Yeah, so on that note, you co-founded an organisation, didn’t you, called Professional Patient Advocacy and Life Sciences. Tell me a little bit more about that.

Jayne: Yeah. So Professional Patient Advocates in Life Sciences is a nonprofit educational organisation that I co-founded with two dear colleagues and friends,  and it was really to say, look, other functions within the biotech and pharmaceutical industry have their professional associations. At the time, patient advocacy didn’t have one, and we were starting to see more conferences or summits or symposia dealing with patient advocacy, what it does and how it does it.
But those are being put together by for-profit conference production companies. Not that they weren’t putting out good information and solid content, but it wasn’t educational in the sense that we wanted something that people could participate in. Where they could have some rigour, and they could eventually get a certification because there’s no certification in patient advocacy. People come to it from many different avenues. They may have been working in the industry and sales or marketing and felt they wanted to do more for patients. They may have come from the clinical side as a nurse or a physician, or they may come at it as a genetic counsellor or clinical in terms of clinical operations and research. Marketing communications, especially, has been an area where people have started to see the connections with advocacy because, as I just said, documentation and communication are so vital in developing these relationships. And so we said, no, we need to do something that’s educational, that is going to be very cost-efficient for an individual, that is going to give companies a way to understand what patient advocacy can look like. Particularly if they’re just starting to develop that effort within their organisation or for HR professionals who are looking to hire people, what does it look like? What’s the phenotype? It’s not the same because it’s not a straight track. And so we developed what we call PPALS from that, and we have had Seven in-person courses of study.
So it’s not a conference. It’s an annual course of study limited to about 50 people plus faculty. We do something called the professional advocacy certification training in conjunction with Sanford Research Institute, which is out in Sioux Falls, South Dakota. And we go there.

There’s no virtual component, so when COVID hit, we had to suspend the in-person courses study for a couple of years. We developed more webinars to keep people engaged and sharing information. And it’s become what we had hoped it would be, which is a way to say that patient advocacy is a strategic corporate function intrinsic to the biotech pharmaceutical industry. And it has a very important role in all of the work that we do. People who are already within patient advocacy come to PPALS; it has different tracks, so it has an introductory, like a 101 and a 201, so that people can come and they can learn from each other in a completely non-competitive environment. People who want to enter patient advocacy come to learn, meet others, and network. And then people who are in patient organisations on the nonprofit side, we have a track for them as well so that they can explore together not only good governance, but good governance as it connects to how you deal with industry. Because that’s something that we see more and more of all the time, which is that partnership between the disease world, the patients, caregivers, families, organisations, and industry. So this has evolved out of rare disease, but thankfully, we’re seeing it as a function, not only within rare disease companies but more broadly. We feel that this course helps people think about the right way, not just altruistically, but the right way to be a patient advocate, to have patient advocacy available versus something that is transactional and purely to achieve maybe a commercial objective. We really encourage people who have an interest in patient advocacy to take a look at PPALS.org. We meet as a course of study in person every May. The week of May 12th, we’ll be back out in Sioux Falls, South Dakota again, and we’re very pleased with it, and now we’re seeing and getting questions like, even though people have attended from other countries, it is based in the States, we’re now being asked, would you like to bring this to Europe? And it’s something that we’re exploring. Certainly, whatever we might do would be separate from anything already available through other organisations that currently provide very solid training. Particularly for the advocates in the advocacy organisations, this would be only for industry.

Liv: It’s had some significant growth since you started it, clearly that need was there.

Jayne: Yeah, and people do a capstone. So, after they attend the course, they do a capstone project. It’s not onerous, but they have to complete a capstone. They have a mentor to help coach them through their capstone development. And then they get their certification.

Liv: So, in patient advocacy, from where you’re sitting now, are you optimistic about the future?

Jayne: Oh, absolutely. Absolutely. It’s not a calm sea with no white caps. They’re there. And that depends upon the personality of the company, the culture, what people are used to, and how they interpret advocacy. Again, as I said earlier, some people interpret it as patient engagement, you have to help us get the patients to enrol on this study, and I’m not saying I’ve experienced that, but I know plenty of people who have. Advocacy is seen as a way to get to the patients, which is very different from a way to understand disease experience, have mutual education and respect, and develop things that can help people be empowered and become their best advocates.
Those are two different things. And, there, you always have people moving from one company to another, bringing their culture and experience into a different one. And how do those things meld? And how does that company how does that company’s leadership think about patient advocacy? That’s where there is always growth. There can be some conflict, but ideally, there’s growth, which becomes more consistent with the vision of PPALS, for example, and the vision of people who think about advocacy, frankly, the way I do. So it’s been an honour to be at a company where I’ve been able to have the leadership that was so dedicated to patient advocacy and given the trust to build something that has made a difference for the people that our company has been interacting with all these years, but also within the industry.

Liv: Absolutely. So, I will let you go, and I will say a huge thank you so much for taking the time to come on and talk to me. I’ve learned so much from talking to you, Jayne.

Jayne: It’s been such a pleasure. Thank you.