Medical Genetics Residency and Fellowship Training Programs

The overall goal of the clinical genetics training program is to ensure that trainees gain the skills they will need to perform appropriate diagnostic testing and management for a wide variety of genetic disorders, inborn errors of metabolic disease, and congenital anomalies. This includes providing family-centered patient care that is developmentally and age appropriate, compassionate, and effective for treatment and promotion of health in individuals with genetic disorders.

Following training, participants will be able to use a logical and appropriate clinical approach to the care of patients presenting for a medical genetics evaluation, applying principles of evidence-based decision-making and problem solving.

In addition, the trainee will also be prepared to describe indications for procedures used in medical genetics and interpret results for families.

Two-Year Medical Genetics Residency (1303521006)

This training program is for residents who have completed at least two years in an accredited residency program in another specialty such as Pediatrics, Adult Medicine, Obstetrics and Gynecology, or other.

The following are the typical rotation blocks (in weeks) for the two-year Medical Genetics residency:

  • General Clinical Genetics: 24 weeks
  • Metabolic Service: 24 weeks
  • Prenatal Genetics: 4 weeks
  • Cancer Genetics: 4 weeks
  • Lysosomal Storage Diseases: 4 weeks
  • Biochemical Genetics Lab: 4 weeks
  • Molecular Genetics Lab: 4 weeks
  • Cytogenetics Lab: 4 weeks
  • Research/Electives: 24 weeks

To Apply to: Two-Year Medical Genetics Residency (Program Number 1303521006)

Sample Rotation Block Schedule: Two Year

Current Trainees in Two-Year Medical Genetics Residency

Name Post Grad Year Medical School
Moe Azuma, MD PGY-4 Asahikawa Medical University
Cristel Chapel-Crespo, MD PGY-4

University of Puerto Rico School of Medicine

Charalampos Chatzicharalmpous, MD PGY-5

Aristotle University of Thessaloniki – Faculty of Medicine

Dallas Reed, MD PGY-6

OB/GYN Residency, Yale New Haven Health \ System -
Bridgeport Hospital

Five-Year Internal Medicine/Medical Genetics Residency (7663544003)

The combined five-year Internal Medicine/Medical Genetics residency program is structured in accordance with the requirements of the American Board of Internal Medicine and the American Board of Medical Genetics. It is required that the resident spends half of their five-year training time on Internal Medicine rotations and half in Medical Genetics rotations.

Residents spend their first year in Internal Medicine. In the second, third and fourth years they split their time between Medical Genetics and Internal Medicine (generally alternating between departments every 6 months), and the entire fifth year is in Medical Genetics. The didactic coursework required for the Medical Genetics residency is taken in the PGY 4 and 5 years, and all residents are required to attend the genetics conferences and seminars when they are assigned to Medical Genetics or elective rotations.

To Apply to Internal Medicine/Medical Genetics Residency (Program Number 7663544003)

  • Applicants should submit their applications to Internal Medicine/Medical Genetics through ERAS
  • Applicants to the five-year Combined Internal Medicine-Medical Genetics Residency must also register with the National Residency Match Program

Sample Block Schedule: Five Year

Current Trainee in Internal Medicine/Medical Genetics Residency

Name Post Grad Year Medical School
Ayuko Iverson, MD PGY-1 Medical College of Wisconsin

Four-Year Pediatrics/Medical Genetics Residency (7653544001)

The combined four-year Pediatrics/Medical Genetics residency program is structured in accordance with the requirements of the American Board of Pediatrics and the American Board of Medical Genetics. It is required that the resident spends half of their 4-year training time in Pediatrics rotations and half in Medical Genetics rotations.

Residents spend the first year in Pediatric-related rotations. In the second and third year their time is split between Pediatrics and Medical Genetics (alternating between departments every 6 months), and the entire fourth year is in Medical Genetics including a six month individualized curriculum. The typical rotation blocks in which the combined program residents participate are identical to those that are required of the 2-year residency trainees. The didactic coursework required for the Medical Genetics residency is taken in the PGY 3 and 4 years, and all residents are required to attend the genetics conferences and seminars when they are assigned to Medical Genetics or elective rotations.

To Apply to Pediatrics/Medical Genetics Residency (Program Number 7653544001)

  • Applicants should submit their applications to Pediatrics/Medical Genetics through ERAS
  • Applicants to the 4-year Combined Pediatrics-Medical Genetics Residency must also register with the National Residency Match Program

Sample Rotation Schedule: Four Year (PDF)

Current Trainee in Pediatrics/Medical Genetics Residency

Name Post Grad Year Medical School
Margo Sheck, MD PGY-1 Stony Brook University Health Sciences Center

Courses and Conferences

During the weekly clinical case conference, the teaching resident—a rotating assignment among the senior trainees—is responsible for reporting on interesting patients and reviewing new developments as they pertain to medical genetics in the basic science and clinical literature. Residents have the opportunity to pursue basic medical genetics research in one of the numerous research laboratories in the department during their training. 

We require the residents in our program to attend and complete a formal, graduate-level course in medical genetics each year. The lectures cover basic scientific underpinnings of genetic disease, clinical genetics, cytogenetics, molecular genetics, and biochemical genetics. In addition, instruction on the genetics of cancer, immunology, developmental and neurological disorders, and population and statistical genetics help round out the residents’ formal education in the basic genetic sciences.

During the required rotations in the clinical genetic laboratories (cytogenetics, molecular and biochemical), residents must review the primary literature in each area and learn about the scientific foundation for each of the diagnostic tests that are performed. Throughout their training, residents are expected to attend the weekly departmental seminar presenting original research in the basic biomedical sciences.

Mandatory Courses and Conferences

  • Medical Genetics Course
  • Clinical Case Conference
  • Clinical Journal Club
  • Departmental Seminar Series
  • Metabolic Didactic (while on clinical rotation)
  • Special Topics in Cytogenetics (while on laboratory rotation)
  • Cancer Genetics Journal Club (while on clinical rotation)

Recommended Courses and Conferences

  • Pediatric Grand Rounds
  • Internal Medicine Grand Rounds
  • Genetics and Genomic Sciences Work in Progress, Research Seminar
  • Genomics of Common Diseases Seminar
  • Metabolic Didactic (while rotating elsewhere)
  • Special Topics in Cytogenetics (while rotating elsewhere)
  • Cancer Genetics Journal Club (while rotating elsewhere)