Medical Genetics & Genomics Residency Program

CHCO Hospital photo


The Medical Genetics and Genomics Program at the University of Colorado offers trainees the opportunity to expand their knowledge as physicians in the field of medical genetics. Providing clinical services at The Children’s Hospital Colorado, the section follows a large number of patients from Colorado, Wyoming, Montana, and parts of Nebraska, Kansas, and New Mexico. This large patient catchment area has allowed us to care for kids and adults with a broad variety of genetic disorders. Staffed by 8 clinicians and a team of outstanding genetic counselors, nurses, and dieticians, our trainees have the opportunity to work with a diverse array of specialist in the field.

Trainees have access to the broad course offerings of the School of Medicine; an especially rich curriculum in the scientific underpinnings of clinical genetics is offered through the M.S. in Human Genetics and Genetic Counseling program. Our 2 year fellowship program is accredited by the ACGME and prepares our graduates to sit for the Clinical Genetics Board Examination administered by the American Board of Medical Genetics (ABMG). Our complement is 2 residents per year.

The fellowship program seeks to attract physicians from diverse backgrounds and experience interested in pursuing careers in medical genetics. The residency is open to physicians who have completed at least 1 year of residency training in another ACGME-accredited primary specialty in the United States or equivalent training in Canada. Trainees must be eligible to work in the United States and obtain a Colorado medical license before the commencement of training.

Clinical medical geneticists are able to

  • Diagnose and manage genetic disorders
  • Provide patient and family counseling
  • Use their knowledge of heterogeneity, variability, and natural history of genetic disorders in patient care decision-making
  • Elicit and interpret individual and family medical histories
  • Interpret clinical genetic and specialized laboratory testing information
  • Explain the causes and natural history of genetic disorders and genetic risk assessment
  • Interact with other healthcare professionals in the provision of services for patients with genetically influenced disorders

Scope of Clinical Experience

The overall goal of the program is to train highly competent, clinical medical geneticists who are able to provide state of the art level of diagnostic, management, and counseling services for wide variety of genetic disorders. The resident’s assignments during the 2 year genetic residency are based on each activity’s educational value toward achieving the program objectives and are not dictated by the service needs.

This 2 year program is divided into twelve 1 month block rotations per year.   

Residents will spend 12 months in the genetics and metabolics clinics at Children’s Hospital Colorado. During these months, residents will have primary responsibility for preparing for clinic visits, conducting visits and then ensuring that appropriate follow up is provided. In addition to general metabolic and general genetics clinics, residents will attend the following specialty clinics: lysosomal, mitochondrial, PKU, galactosemia, skeletal dysplasia, neurogenetics, autism, Prader Willi, Angelman, 22q, neurofibromatosis, ocular genetics, vascular malformations.

Residents will spend 6 months in the University Hospital genetics clinics. This includes the Adult Genetics clinic, prenatal genetics as well as adult hereditary cancer syndromes clinic. During those months, residents will also participate in prenatal genetics consultations at Children’s Hospital Colorado as well as participating in the pediatric hereditary cancer syndromes clinic.

Residents will spend 3 months conducting a research project of their choosing under the mentorship of one of the faculty members. Those months may be arranged as is most conducive to the particular project (either consecutively or dispersed).

Residents will spend 6 weeks of time in the 3 affiliated laboratories (biochemical, molecular genetics, cytogenetics). They will also spend 6 weeks attending elective clinics such as cardiac genetics, neuromuscular clinic, Down syndrome clinic, fragile X clinic, hearing loss clinic, and  craniofacial clinic.

Residents will spend 1 week of each month on call for the inpatient genetics and metabolics service at Children’s Hospital Colorado. Responsibilities during the monthly week on call include:

  • first call for inpatient consultations
  • first call for outpatient consultations from internal and community physicians
  • conduct urgent add-on clinic visits
  • participate in newborn screen results follow up
  • take urgent calls from families about management of illness

Lab Experience

The residents have a 6 week laboratory rotation which includes 2 weeks each in the cytogenetics laboratory, the molecular genetics laboratory, and the biochemical genetics laboratory. The goal of these rotations is for the residents to:

  • learn what techniques are used for the diagnostic tests and what specimen is appropriate for each test
  • learn the interpretation of the results in regard to its clinical significance and to learn what other tests are indicated to clarify any ambiguity or further define an abnormality
  • become aware of the regulations and guidelines under which a laboratory is required to operate
  • become proficient at reporting laboratory results back to the ordering care providers
  • become familiar with laboratory workflow and administration

The Biochemical Genetics focuses on lab procedures relevant to the diagnosis and management of amino and organic acidemias and disorders of fatty acid oxidation. Analyses presently offered include amino acid screening and quantitation; organic acid screening; quantitation of succinylacetone and glutaric, 3-hydroxyglutaric, orotic, methylmalonic, and N-acetyl aspartic acids by stable isotope dilution gc-ms; screening and qualitative analysis of mucopolysaccharides; profiling of acylcarnitines by tandem mass spectrometry; and enzyme assays for very long-chain acyl-CoA dehydrogenase, glutaryl-CoA dehydrogenase, electron transfer flavoprotein (ETF), and ETF-ubiquinone oxidoreductase. The laboratory has been CAP accredited for over twenty years.

The molecular laboratory has become a worldwide referral center for molecular testing for inborn errors of metabolism, pigmentation disorders, and diseases of the eye in addition to offering testing for common disorders such as the Fragile X syndrome, cystic fibrosis and thrombophilia. The laboratory currently process approximately 3500 samples per year and offers testing for over 150 genes. The laboratory serves as a core center for isolation of DNA from blood and other tissues for many projects on the Anschutz Medical Campus, including the CTSI. Advanced molecular testing, such as duplication/deletion chips and exome sequencing, are in development.

The Colorado Genetics Laboratory (CGL) of University of Colorado Denver is a full-service state of the art clinical cytogenetics, molecular genetics, education and research laboratory. With a rich history as a leader, early milestones included automated karyotyping (1986), clinical fluorescent in situ hybridization (FISH, 1991), and comparative genomic hybridization (CGH, 1992) in addition to standard cytogenetic testing. Clinical sample volume approaches 12,000 samples/year of postnatal, prenatal, and cancer including paraffin embedded samples. Rapidly expanding chromosomal microarray (CMA) genomic testing has been offered clinically since 2006, with a high density CMA/SNP array since 2014.

Didactic Lectures

We offer 5 didactic courses to trainees:

  • Molecular Genetics and Cytogenetics
  • Survey in Human Genetics (offered through the Human Medical Genetics Program)
  • Biochemical Genetics (offered every other year)
  • Risk Assessment
  • Cancer Genetics

The classes are coordinated through the graduate genetic counseling program except where noted above. Further, the Department of Pediatrics offers an evening fellows lecture series to which the medical genetics residents are invited and encouraged to attend.


Residents participate in the following education conferences:

  • Basic science research presentations
  • Metabolic patient care meeting 
  • Laboratory Rounds 
  • Pediatric Grand Rounds
  • Genetics Journal Club 
  • Genetics Grand Rounds 
  • Variant interpretation conference 
  • Clinical research update meetings
  • Morbidity and Mortality Conference 
  • Radiology Rounds

 Other Opportunities:

  • QI/QC Workshop and training
  • Resilience training
  • Resident and fellow retreats/workshops through GME
  • Metabolic University
  • Mountain States Regional Genetics Network Meeting
  • North American Metabolic Academy (NAMA)

Research and Scholarly Activities

Each resident will be given 3 months of research time. The goal is for the resident to become involved in a mentored clinical or bench research project which results in submission of an abstract or preparation of a manuscript. The goal of this research time is to learn:

  • research methodology and clinical research study
  • informed consent and IRB approval processes
  • evaluation of the results, including the utilization of statistical methods
  • experience writing and submission of an abstract and/or a manuscript. 

Other Scholarly Activities

In addition to the formal research rotation, the residents are encouraged to participate in scholarly activities throughout the 2 years of residency.  Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged. 


Jessica McPhaul, MD

Medical School: University of Miami Miller School of Medicine
Pediatrics Residency: Cincinnati Children's Hospital Medical Center
Pediatric Cardiology Fellowship: Children's Hospital Colorado 

Research Interests:  Cardiovascular genetics



Emily Shelkowitz, MD

Medical School: Warren Alpert Medical School of Brown University
Pediatrics Residency: Children's Hospital Colorado 

Research Interests:  Neurogenetics and neurometabolics, mitochondrial disease, and newborn screening


Updated ERAS and NRMP schedule due to COVID19:

July 1, 2020

Applicants start to apply on ERAS

August 12, 2020

Programs begin to review applications

August - October

Virtual Interviews (via Zoom)

October 28, 2020

Match Day


Applications for the combined Pediatrics/MGG program:

September 1, 2020

Applicants start to apply on ERAS

October 21, 2020

Programs begin to review applications

October - February

Virtual Interviews (via Zoom)

March 19, 2021

Match Day


For questions about our program or the application process, please contact the following:

Austin Larson, MD
Program Director

Holly Ables, MA
Senior Academic Professional​

Diversity / Equity / Inclusion


We are committed to creating a diverse environment for students, residents, fellows, and faculty. We believe that an environment of inclusiveness and respect promotes excellence and that a setting where diversity is valued leads to the training of physicians who are prepared to practice culturally effective medicine and meet the needs of the various populations we serve. Visit our Diversity, Equity, and Inclusion in PEM page for more.

Well-Being / Resilience

Be well

By embracing wellness and improving personal resiliency, physicians can reconnect with the meaning of their work and fend off stress. Reducing or eliminating burnout also has practical implications for the entire department such as improving patient safety, student advancement, and the overall campus environment. 

Visit our Pediatric Well-Being and Resilience website...