Medical Genetics

The Division of Medical Genetics resides jointly in the Department of Genetics and Genome Sciences, the Department of Obstetrics and Gynecology, and the Department of Pediatrics. The mission of the division is to provide high quality, timely and state-of-the-art genetic consultations, counseling, and interventions for patients from the prenatal period through childhood, adolescence, and into adulthood.

This past year Karen Rubin, MD, was appointed interim division chief of the Pediatric Clinical Genetics Program at Connecticut Children’s to lay the groundwork for building a contemporary pediatric genetics/genomics program. Recognizing the large administrative burden of genetic testing, a new job description and position, genetic counselor assistant, was approved to offload administrative tasks from geneticists and genetic counselors.

Divisional Structure and Staffing: A multidisciplinary Genetics Care Team comprised of clinical geneticists, genetic counselors, and metabolic dieticians provides genetics/genomics expertise and services across the life continuum at UConn Health and Connecticut Children’s. The consolidated care team is comprised of 2.0 FTE clinical medical geneticists, 2.0 FTE prenatal genetic counselors, 0.8 FTE general genetic counselor, 0.8 FTE newborn screening (NBS) genetic counselor, 1.8 FTE hereditary cancer genetic counselors, 1.0 FTE teratology counselor, and 0.8 FTE metabolic dietitians. The academic, administrative, and clinical offices reside at 11 South Road, Farmington. Pediatric-aged general genetic patients and metabolic patients are seen at the Connecticut Children’s office at that location, and adult general genetics patients are seen at a UConn Health office at the same address. Prenatal and hereditary cancer genetic counseling services are provided in the outpatient pavilion on the main UConn Health campus. MotherToBaby CT, our teratogen-counseling program, provides additional prenatal counseling services at 195 Farmington Ave., Farmington, CT. Educational mission: The division’s teaching responsibilities begin in the first year of medical school and extend through the postgraduate years. A substantial number of medical students, residents, fellows, and genetic counselor learners rotate through Genetic clinics and/or attend educational sessions provided by Genetics faculty.

Participation on a national committee: Sharon Voyer Lavigne, MS, LGC, serves on the board of directors for the Organization of Teratology Information Services (OTIS). (She also serves as vice president of the board of directors for Postpartum Support International, Connecticut Chapter.)

Collaborations within UConn Health: The Medical Genetics division supports UConn’s Maternal-Fetal Medicine Program and the Ray Neag Comprehensive Cancer Center in Farmington. Increased adoption of non-invasive prenatal genetic testing and of expanded and improved test offerings for patients with hereditary cancers continue to drive up patient volumes in the prenatal service and the hereditary cancercounseling program. MotherToBaby CT expanded its statewide coverage over the past year.

Collaborations within Connecticut Children’s: Joseph Tucker, MD, continues in his role as an active member of the GUPPE program, which provides multidisciplinary care for children with disorders of sexual development. The program also includes members of Connecticut Children’s Urology, Psychiatry, Psychology, and Endocrinology divisions.

Collaboration with the DPH Newborn Screening (NBS) Lab and the Connecticut Newborn Diagnosis and Treatment Network: Connecticut Children’s Genetics division has assumed an expanded role in newborn screening (NBS) since the statewide network model went live in 2019 with an electronic NBS Registry within Epic that links to the Department of Public Health (DPH) Lab’s electronic system, Maven. The network, funded through the Connecticut DPH, is housed in the Pediatric Clinical Genetics Program at 11 South Road in Farmington. It was planned and implemented by Connecticut Children’s under the leadership of Dr. Rubin, and it serves as the communication link between the DPH NBS laboratory, primary care providers or hospitalbased medical providers, five subspecialty clinical care teams at both Connecticut Children’s and Yale New Haven Hospital (Genetics, Endocrinology, Hematology, Neurology, and Immunology), and families. The network responds to all NBS results that are abnormal in the entire state of Connecticut. In coordination with the infant’s health care providers (HCPs), the network initiates a diagnostic work-up and provides support to the HCP and family. If an infant confirms positive for a disorder, the network coordinates treatment and longterm follow-up, working with primary care physicians, hospitals, and specialists statewide. Connecticut now screens for more than 60 disorders. In the past year, the network received 386 referrals from the DPH NBS lab with 221 abnormal screens in genetics. Our geneticists provided real-time interpretation for these 221 cases, initiated further diagnostic testing, and ensured timely initiation of care. To support the expanded roles of our geneticists, the network provides genetic counseling services and metabolic dieticians to assist patients and their families identified through NBS as having metabolic disorders. The network team includes 1.0 FTE nurse coordinators, a 1.0 FTE Epic analyst who oversees the NBS Registry and related reporting and analytics, and a 0.8 FTE dedicated genetic counselor. The Connecticut Children’s Metabolic Clinic now sees both adult and pediatric patients for purposes of continuity of care and care coordination.

NBS GRANTS

Connecticut DPH grant – For the provision of a diagnostic and treatment network for Connecticut’s Newborn Screening Program (NBS) utilizing a population health approach. PI: Karen Rubin, MD. Annually for three years starting 7/1/18; total $1,797,531; $599,177 per year.

Federal grant, Association of Maternal and Child Health Programs (AMCHP) – Leveraging telehealth and the family voice to deliver on the promise of newborn screening. PI: Karen Rubin, MD. Award notification: 9/29/20, $100,000. The project goals are to improve access to families for health care and support in the pre-diagnosis phase and to expand access to genetic counseling services for the families affected by NBS. In addition, we will utilize this funding to support the development of the family voice in the network programs and activities by building and training a family advisory group to advise the network on how to improve educational outreach activities moving forward, and in particular to reach ethnically diverse families facing health inequities.

STAFF

Karen Rubin, MD, Interim Division Chief of Pediatric Clinical Genetics Program, and Director of the NBS Network Medical Geneticists Joseph Tucker, MD Jaclyn Beirne, MD

Medical Genetic Counselors Alicia Craffey, MS, LCGC Brittany Gancarz, MS, LCGC Jennifer Stroop, MS, LCGC Sharon Voyer Lavigne, MS, LGC Connor Linehan, MS, LGC

Pediatric Genetic Counselor Virginia Casola, MS, LCGC Metabolic Dietitians Sherry Gray, MS, MPH, CD-N Kaitlyn Ware, MS, RD, CNSC, CD-N

Newborn Screening Network Team:

Genetic Counselor Ginger Nichols, MS, LCGC

RN Coordinators Debra Ellis Meghan Criscuolo

RN Epic Analyst Katherine Raboin