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Medical Genetics & Genomics Residency Program


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The Medical Genetics and Genomics Residency Program at the University of Colorado offers residents 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 residency 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 residency 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. Residents 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 Experince

This 2 year program is divided into eight 3-month block rotations.  First year residents gain experiecne on the general genetics service, metabolic genetics service, prenatal diagnosis and adult genetics clinic, and clinical lab rotations in biochemical genetics, cytogenetics, and molecular genetics. The second-year rotations include general genetics serivce, metabolic genetics service, hereditary cancer clinic and subspecialty clinics in addition to 3 onths of protected research time. 


Year 1

Each resident will serve three months on rotation on the General Genetics/Dysmorphology outpatient and inpatient service, and three months on the Inherited Metabolic Diseases (IMD) outpatient and inpatient service.  These rotations will involve patient evaluations at University Hospital and Children’s Hospital Colorado.  The resident is expected to evaluate 150 patients per year.  Each resident will attend all weekly genetic seminars and conferences which includes Wednesday journal club and diagnostic dilemma conference, Thursday IMD post-clinic conference (while on IMD rotation), Monday metabolic laboratory conference (while on IMD rotation), and monthly genetics radiology conference.  The resident is also expected to attend the required didactic classes that occur throughout the first.  While on their general genetics rotation, the residents are expected to participate in the Skeletal Dysplasia, 22q11 Deletion Syndrome, and Special Care clinics.  They are also expected to participate in the Mitochondrial clinic and the Colorado Springs IMD clinic while rotating in the IMD clinic.  The second half of the year, each resident will be expected to do a three (3) month rotation in Prenatal Diagnosis and Adult Genetics clinic and a three (3) month laboratory rotation which includes one month in each of the following laboratories: cytogenetics, biochemical, and molecular laboratories.  During the laboratory rotation, the resident is required to attend two regional genetics clinics per month. 


Year 2

In the second year of training, each resident will spend three months in the General Genetics/Dysmorphology outpatient and inpatient service and three months in the Inherited Metabolic Diseases (IMD) outpatient and inpatient service.  The rotation and clinic expectations are the same as the first year; however, Neurogenetics clinics are added during the general genetics rotation.

In addition, each resident will have a three (3) month rotation in the Hereditary Cancer clinic and subspecialty clinics as well as a three (3) month research rotation.  During the subspecialty clinics rotation, the resident is required to attend and actively participate in the Neurocutaneous, Neuromuscular, Oncology, Down Syndrome, and Cardiac clinics.  The resident is required to attend at least four clinics of each during the three month rotation.  They are then allowed to choose two or three other clinics which to attend and participate.  Available clinics include the following: Hereditary Cancer, Hemophilia, Sickle Cell, Cystic Fibrosis, Cleft Palate/Hearing Loss, Ophthalmology, Spina Bifida, Epidermolysis Bullosa, Autism, Fragile X, Extraordinary Kids Clinic, Prader-Willie Syndrome, Rett Syndrome, Turner Syndrome, and Genetic Skin Disorders.  Research time will be protected from clinical duties as much as possible.  During the year the resident is expected to see approximately 75 patients.  The resident will attend the remaining required didactic courses and should attend all of the weekly genetic seminars and conferences.


Inpatient Experience & On-call Responsibilities

During the six months of the General Genetics/Dysmorphology rotation, the residents are on first call during working hours for two weeks (10 days) per month.  Due to the generally low volume of calls at night and on weekends, there is no night or weekend call.  Exceptions to this, however, can be made.  The on-call genetic faculty may call the resident on rotation during the off hours anytime there is a consult for a rare condition or if the consult has significant educational value for other reasons.  Working hours call coverage largely includes phone consultations from care providers, either from within the hospital or community providers.  Responses to these calls are discussed with the covering attending physician.  A monthly call schedule is made in advance with residents being allowed to request their weeks as desired.  The call schedule, as requested by the resident, must comply with duty hour guidelines.  The schedule is also flexible regarding special requests for time off and holiday and vacation requests.  Throughout the entire rotation, the resident is also notified of each request for inpatient consultation.  Unless the consult is urgent and the resident is unable to attend (didactic course, other clinical activity), the resident is the first to respond to all inpatient consults.

During the six month rotation in the Inherited Metabolic Disease Clinic, the residents are on first call both day and night for two weeks per month and two weekends per month.  Call coverage includes phone consultations from care providers, after-hours phone calls from families and physicians, and following patients hospitalized at an outside facility.  A monthly call schedule is made in advance; residents are allowed to request their weeks and weekends as desired.  The call schedule, as requested by the resident, must comply with duty hour guidelines and residents will not be allowed to take two consecutive weeks in a row without intervening time off.  The schedule is also flexible regarding special requests for time off and holiday and vacation requests.  There is no in-house nighttime call.  Evening and nighttime call is taken from home.  Residents are expected to come into the hospital in the night or on weekends when an urgent consult is requested.  During the entire rotation, the resident is responsible for all new inpatient consultations, including new night and weekend consults, when on call.  The resident is also responsible for daily inpatient rounds, as necessary, on metabolic patients and/or consults who remain hospitalized.  In addition, the resident is responsible for any admissions planned by the metabolic service. 

Lab Experience

The residents have a three month laboratory rotation which includes one month 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 abnormalityearn 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 UCD 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.  UC Genetics Link

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

Throughout the two years of medical genetics residency training, five formal didactic courses are required.  The timing of the courses varies depending upon the class schedule and the resident’s current responsibilities and rotations.  The following classes are required:

  • 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.  A log of attendance must be kept by the resident and submitted to the program director every three months.  In addition, an ethics course is recommended and options to pursue this are discussed with the resident.  Further, the Department of Pediatrics offers an evening fellows lecture series to which the medical genetics residents are invited and encouraged to attend.


Weekly Conferences        

Prenatal Conference

Abnormal cases from prenatal clinic and review topics are presented and discussed by clinic staff, trainees, and faculty.

  • Wednesday    10:00 AM – 12:00 PM
  • Required to attend when on the prenatal clinic rotation


Wednesday Educational Conferences

Primary purpose is to review difficult cases and formulate future steps in the diagnostic evaluations and do critical review of recent genetic articles.  First Wednesday of the month is Clinical Genetics Grand Rounds with research presentations by faculty.  The second Wednesday of every month is Diagnostic Dilemma/Case Conference.   The third Wednesday of every month is Journal Club during which residents present a journal article for the section. The fourth Wednesday of the month is the Clinical Cytogenetics conference which reviews cases with unique cytogenetic or molecular findings. 

  1. Clinical Cytogenetics Conference 
  2. Diagnostic Dilemma Conference
  3. Genetics Grand Rounds
  4. Journal Club Conference
  5. Morbidity & Mortality Conference
  • Wednesday    3:00 PM – 4:00 PM
  • Required to attend monthly


IMD Clinic Conference

Provides the residents with access to interdisciplinary faculty and staff discussion regarding patient management issues.  Clinic patients, inpatient consultations, and active outpatients are discussed.  A short topic review by faculty, trainees, or staff also occurs.

  • Thursday       1:00 PM – 3:00 PM  
  • Required to attend when on the IMD clinic rotation


Human Medical Genetics Program Grand Rounds

This weekly one-hour seminar provides an opportunity for residents, students, and faculty from all of the genetics programs on campus to hear both locally and nationally recognized speakers discuss topics of basic science and clinical research interests.

  • Thursdays      4:00 PM - 5:00 PM
  • Location: Hensel Phelps Auditorium


Pediatric Grand Rounds

This weekly one-hour seminar provides an opportunity for residents, students, and faculty from the Department of Pediatric to hear both locally and nationally recognized speakers discuss topics of basic science and clinical research interests within the field of Pediatrics.

  • Fridays     12:30 PM - 1:30 PM
  • Location: Mt. Oxford Auditorium


Monthly Conferences 

Metabolic Laboratory Conference

Review of laboratory findings, discussions of cases and of general laboratory or clinical issues that may relate to patient care.  Clinical faculty and staff and laboratory faculty and staff attend.

  • First Monday    2:00 PM –3:00 PM
  • Location: Education 2 South Bldg.
  • Required to attend when on the Inherited Metabolic Diseases clinic and biochemical genetics laboratory rotation


Genetics Radiology Conference

Review of patient specific radiological studies with discussion regarding the findings and possible differential diagnoses.  Clinical faculty and staff and radiology faculty and trainees attend.

  • First Friday     7:30 AM – 8:30 AM
  • Location: Mt. Lincoln conference room (CHCO)
  • Required to attend monthly

*Conference dates & times are subject to change


Research and Scholarly Activities

Capstone Project

Residents participating in the University of Colorado Medical Genetics Residency Program must complete a Capstone Project.  This is a mentored scholarly project relevant to the field of genetics which is to be initiated during the second half of the first year and completed during the spring semester of the second year.  Each project will culminate in a formal paper and/or other written product of publishable quality.  Residents will present their completed projects at one of the Wednesday conference in spring semester of their second year.  Additionally, residents will be encouraged to present their projects at a campus research/poster forum, submit them as abstracts for poster or platform presentation at national meetings, and/or submit them for publication, if appropriate. 


Eligible Projects

To meet the diverse interests of residents entering the genetics profession, several types of projects may be appropriate for a Capstone.  These may include a detailed case study and literature review, a clinical or laboratory-based research project addressing a question(s) with direct relevance to clinical genetics practice, a formal needs assessment, a secondary analysis of existing data (e.g. related to a genetic services delivery issue), or development of educational materials/programs (e.g. development/evaluation of clinical practice tools, creation/evaluation of substantive informational materials to benefit individuals/families impacted by genetic conditions, development/evaluation of a professional educational program).  Ideas for projects can be proposed by residents or potential mentors; however, approval of a project will be dependent on the identification of a primary mentor who has the time and can commit to working  closely with the resident in order to ensure successful completion of the proposed project. 


Other considerations in selecting projects

Due to the very long lead time frequently required for review, revision, and approval of project proposals requiring full review by COMIRB, residents and their committees who are pursuing research involving human subjects are advised to undertake projects that are eligible for exempt (preferred) or expedited review status.  In the event that a project requiring full review is proposed, a minimum of 3 months should be incorporated into the project timeline between date of submission of the proposal to COMIRB and anticipated completion of COMIRB review.  Research involving human subjects cannot commence until IRB approval or exemption is received.  Projects should be of a well-defined, realistic scope to ensure that they can realistically be completed no later than April of the resident’s second year so that the resident and reviewers can meet deadlines and requirements for on-time program completion.



Each resident will be required to form a Capstone committee consisting, at the minimum, of a primary mentor and one secondary advisor.  Together, the committee members will assist the resident with proposal and timeline development, and will meet regularly with the resident for work-in-progress meetings to track progress and provide review and mentorship. 



Each resident will be given three months of research time.  This time may be used to work on the Capstone project or to work on another research/scholarly project.  The goal is for the resident to become involved in a 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 (a) research methodology and clinical research study, (b) informed consent and IRB approval processes, (c) evaluation of the results, including the utilization of statistical methods, and (d) experience writing and submission of an abstract and/or a manuscript.  Upon completion of the research months, the resident is required to submit a written summary of his/her activities during that time which includes concept, disorder, or topic investigated, techniques or methodology utilized, research outcome, and possible future plans for research.  If applicable, the resident will be required to present his/her research and findings as part of the Wednesday Journal Club and Diagnostic Dilemma conference. 


Other Scholarly Activities

In addition to the formal research rotation, the residents are encouraged to participate in scholarly activities throughout the two years of residency.  Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged.  The resident is required to provide the residency coordinator with copies of all abstracts, posters, presentations, and publications.  In addition, teaching opportunities will be directed by the faculty to the resident and a faculty member will be available to assist the resident in presentation development.  An outline of the presentation and/or a copy of the objectives or handout will also be given to the residency coordinator.  If possible, a faculty member will attend the presentation and provide feedback to the resident regarding his/her teaching skills.  Obtaining written teaching evaluations from the audience is encouraged. 

 Medical Genetics & Genomics Residents 2019-2020


1st Year

McPhaul Picture.jpg

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 Interest:  Cardiovascular genetics

Emily pic.jpg
Emily Shelkowitz, MD
Medical School: Warren Alpert Medical School of Brown University
Pediatric Residency: Children's Hopsital Colorado 
Research Interest:  Neurogenetics and neurometabolics, mitochondrial disease, and newborn screening

2nd Year 

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Patrick Long, MD

Medical School: University of Cincinnati College of Medicine
Family Medicine Residency: Michigan State University
Research Interest: Intersection of genetics and primary care 

How To Apply



The Medical Genetics & Genomics Residency is part of the NRMP Match program. Please apply through ERAS. We follow the fellowship calendar with an August opening date and October Match Day. We offer approximately 6 dates between August and November to conduct interviews.


Important Dates

​July ​Applicants may apply on ERAS
August - September ​Interviews
​December ​Match Day
For questions about our program or the application process, please contact the following:


Austin Larson, MD
Program Director 
Phone: (303) 724-3632

Holly Ables, MA
Program Coordinator
Phone:  (303) 724-2354