Joan M. Wismer Foundation Grant Helps Provide Genetic Counseling for Patients at Miller Children’s

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Kathryn Singh, MPH, MS, LCGC

Kathryn Singh, MPH, MS, LCGC

With the aid of grant funding from the Joan M. Wismer Foundation, secured by the Memorial Medical Foundation, the Cystic Fibrosis Center at Miller Children’s & Women’s Hospital Long Beach provides timely genetic counseling to patients and families of children with cystic fibrosis (CF).

Most recently, the Joan M. Wismer Foundation renewed a grant for $22,500, totaling $92,500, which has been designated for genetic counseling since 2011. With the funds Miller Children’s was able to add a genetic counselor to the care team. Kathryn Singh, MPH, MS, LCGC is an assistant clinical professor at University of California, Irvine who provides genetic studies and family education to patients receiving treatment at the Cystic Fibrosis Center.

“Supporting the work done by the Cystic Fibrosis Center was something that was very important to Joan,” says Jack Dilday, trustee, Joan M. Wismer Foundation. “Joan started this on her own before she passed, and we want to make sure that this program can continue to offer the unique support it has been providing to the patients and families of Miller Children’s for years to come.”

Every week patients and their families have the opportunity to meet with Ms. Singh who helps explain, in detail, the way a patient’s genetic information has caused them to have CF. This includes explaining autosomal recessive inheritance, specific characteristics of a family’s disease-causing mutations, the risk for recurrence in future siblings and offspring, appropriate carrier testing for family members, and the psycho-social implications of a CF diagnosis. Ms. Singh is able to identify patients who are eligible for research studies based on their genetic mutations and works with families to enroll them in the studies.

“With the human body consisting of thousands of genes it is important that we have a skilled genetic counselor on our team who can interpret this information,” says Eliezer Nussbaum, M.D., medical director, Cystic Fibrosis Center, Miller Children’s. “Kathryn [Singh] not only helps patients, she also helps physicians understand the nuances of each patient’s illness so that we can better treat them.”

After a simple cheek swab or blood sample is sent to a laboratory for testing, Ms. Singh can view a patient’s unique gene sequence and determine what these genetic changes mean in relation to their diagnosis of CF. Through studying a patient’s abnormal genes, Ms. Singh can help predict the severity of their CF, as well as other complications they might be prone to. This individual analysis helps physicians at the Cystic Fibrosis Center determine a unique and more effective treatment plan for each of their patients.

“Most CF centers have a genetic counselor available to refer patients to, but not one integrated as part of their core team,” says Ms. Singh. “Thanks to the generosity of Mrs. Wismer I am available as more than a one-time consultant and am able to meet with families any time they have a question. Understanding the impact of a genetic disease on a family is a process that evolves over time and I am there throughout that evolution, from a suspected diagnosis in a newborn all the way to the time that a patient is an adult and considering having children of their own.”

The detailed care provided by Ms. Singh has had a tremendous impact on patients and families. After being given the opportunity to meet with a genetic counselor, families report better knowledge, skills and functional understanding of the disease. Even younger patients become empowered to advocate for their own care once they gain a better understanding of how their CF affects them.

About the Pediatric Pulmonary Center at Miller Children’s & Women’s Hospital Long Beach

The Pediatric Pulmonary Center at Miller Children’s offers fully integrated, state-of-the-art, respiratory care for children from birth to 21 years with conditions involving the lungs and respiratory system, such as asthma, lung disease of premature infants, cystic fibrosis, allergies and sleep disorders. The Pediatric Pulmonary Center treats children nationally and internationally and offers specialized programs in asthma, allergy, immunology and cystic fibrosis (CF), where children receive a comprehensive care plan that will manage their symptoms from diagnosis to treatment by a specialized care team. Miller Children’s is a leader in advanced pediatric respiratory care technology, such as pulmonary function testing for infants, lung function testing, exercise cardio-metabolic-pulmonary testing, allergy skin testing, fiber-optic bronchoscopy procedures, sleep studies and endoscopic examinations. Visit, like us on, follow us on Twitter @MillerChildrens and on Instagram @MillerChildrens.

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