In this interview, Catherine Nester, RN explains the importance of entering phase 2 of the whole genome sequencing newborn screening program.
The BeginNGS program has the potential to change the lives of patients with rare diseases like ENPP1 deficiency, according to Catherine Nester, RN, senior vice president of HCP and patient engagement at Inozyme Pharma. In this interview, Nester explains the impact of entering phase 2 of the whole genome sequencing newborn screening program.
Transcript
What has the reception been from physicians, patients, and families?
I will speak specifically about how the patient care community feels about this. And I know the parents who run GACI [Generalized Arterial Calcification of Infancy] Global–which is the patient organization, that is relevant to ENPP1 deficiency–they are ecstatic that this sort of program is happening and it's been a dream of theirs, that their patient community can find a more efficient way for these babies to get diagnosed. And they realize that the sooner you can get an infant connected to care, the better chance they're going to have to survive.
This is life-changing for families like the families that that I work with, who have children with ENPP1 deficiency, this is just an absolute game-changer for them. So, many of those children don't get diagnosed–sometimes don't get diagnosed at all, sometimes don't get diagnosed until they've passed away. For those families, this is just the sort of thing that really gives them hope for the future, that having this broad screening program in place will actually help their children survive this disease. We can't underestimate how much this is really going to change care for infants.
Bimekizumab Shows Promising 52-Week Safety and Efficacy in Psoriatic Arthritis
May 3rd 2024Promising results presented at the Academy of Managed Care Pharmacy 2024 annual meeting support the safety and efficacy of bimekizumab treatment in patients with active psoriatic arthritis who had previously shown inadequate response or intolerance to tumor necrosis factor inhibitors.
Read More
Tackling Health Inequality: The Power of Education and Experience
April 30th 2024To help celebrate and recognize National Minority Health Month, we are bringing you a special month-long podcast series with our Strategic Alliance Partner, UPMC Health Plan. Welcome to our final episode of this limited series and our conversation with Janine Jelks-Seale, MSPPM, director of health equity at UPMC Health Plan.
Listen
A new federal rule will enable thousands of immigrants in the Deferred Action for Childhood Arrivals (DACA) program to obtain health care through the Affordable Care Act; a forthcoming CMS rule is expected to lower home-based care wait times and raise caregiver wages; the HHS Office for Civil Rights has finalized 2 rules that strengthen the ACA’s health care discrimination ban.
Read More
Examining Low-Value Cancer Care Trends Amidst the COVID-19 Pandemic
April 25th 2024On this episode of Managed Care Cast, we're talking with the authors of a study published in the April 2024 issue of The American Journal of Managed Care® about their findings on the rates of low-value cancer care services throughout the COVID-19 pandemic.
Listen
Initiating BP Medication Linked to Higher Fall, Fracture Risks in Nursing Home Residents
May 2nd 2024Among over 60,000 nursing home residents who initiated antihypertensive medication, rates of excess fractures due to falls per 100 person-years were as high as 5 among certain patient groups, such as those with dementia and high blood pressure (BP).
Read More