Sun, 25-Oct-2020
Wednesday 11 Mar 2020 , 6:59 am

Inborn Errors and Genetic Diseases are Now Treatable with New Tools & Procedures: PerkinElmer’s Petra Furu

PerkinElmer’s GSP Neonatal Creatine Kinase –MM (CK-MM) kit recently received FDA approval and it is the first commercially available assay for screening newborns affected by Duchenne muscular dystrophy (DMD). In an interview with Smart Industry News, Petra Furu, General Manager of Reproductive Health, PerkinElmer, said that expansion of non-invasive diagnostics in newborns is mainly focused on industrialized countries in Europe and North America but its expansion is happening in developing countries too.
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  • Diseases like DMD are very rare and life threatening, the Centers for Disease Control and Prevention (CDC) advises that its early diagnosis could lead to more personalized care for each person living with muscular dystrophy.
    Which are the other diseases that you think need to be focused and require non-invasive innovation in 2020?
    As tools and new procedures become available, an increasing number of inborn errors and genetic diseases are now treatable. In many instances, people are able to more effectively manage the disease, receive more personalized care, and increase the likelihood of reaching his or her full potential. The decision on which diseases to emphasize should be based on the general benefits to both the person as well as the community, including considering what the benefit of treatment would be, cost and prevalence of the disease in the population.
  • What is the difference in the challenges and the risks that are considered while making devices for newborns compared to infants and older children?
    When detecting markers in newborns, the sample volumes and matrixes can be different for the markers that need to be tested. The metabolic rate of a newborn baby can change rapidly within the few first days of life and the test needs to be adjusted to the sampling time.
  • Which factors do you think are driving the non-invasive diagnostics industry?
    Rising awareness, improved accessibility for treatments, increasing number of new drugs with improved efficacy for novel diseases can all be responsible for the growth of market.
  • In which region is the demand for non-invasive diagnostics growing and which region is expected to contribute to the largest share in the coming period?
    As novel treatments are in general quite expensive, expansion of diagnostics in newborns is mainly focused on industrialized countries in Europe and North America. However, expansion is also happening in developing countries, where the establishment of screening programs has been historically limited. With a better emphasis on improving health care, more focus is naturally occurring on prevention and screening.
  • Non-invasive solutions are gaining popularity and we assume that there will be a need for more innovations in the future. But, are there enough specialists with required skill available in the research? If not, what needs to be done to bridge the gap?
    With a greater need for drug discovery at a more rapid pace, research labs are at an inflection point. Automated technologies will help labs be better equipped to manage throughput, assist with everyday manual operations, and other tasks that will optimize outcomes. For instance, with robotic process automation (RPA), lab workers can assign bots to replicate entire processes that would otherwise be performed by staff members, allowing them to focus on more critical operations.



Neha Mule

Neha writes articles on sectors including medicine, food, materials, and science & technology. A qualified statistician, she has the ability to observe and analyze the trends in global markets and write compelling articles that help CXOs in decision making. She is a bookworm and loves to read fiction, lifestyle, science and technology. Neha comes with 6 years of experience in content writing and editing that involves blog writing, preparation of study materials and OERs.

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