Genetics

• Elective Director: Hailey Pinz, MS, CGC (hailey.pinz@health.slu.edu)

• Faculty

  • Stephen Braddock, MD (stephen.braddock@health.slu.edu)

  • Katherine Christensen, MS, CGC (katherine.christensen@health.slu.edu)

  • Kara Klemp, MS, CGC (kara.klemp@health.slu.edu)

  • Hailey Pinz, MS, CGC

• Additional Medical Genetics faculty include prenatal genetic counselors whom you may not meet, as they perform services offsite; Rachael Bradshaw, MS, CGC, Ashley McElheny, MS, CGC, and Kayleigh Swaggart PhD, MS, CGC.

• Nursing staff: Deborah Boylan (deborah.boylan@ssmhealth.com) and Mary Howell (mary.howell@ssmhealth.com)

• Administrative assistant: Lisa McNeil (Lisa.McNeil@health.slu.edu) and Loletta Zasaretti (loletta.zasaretti@health.slu.edu)

• +/- Maternal Fetal Medicine Fellows

• Learners: up to 2 per week

  • Residents (pediatric, family medicine, internal medicine) (2-4w)

  • Fourth year medical students on elective (2-4w)

  • Third year pediatric clerkship or career exploration students

• Contact Hailey Pinz at least a week before starting to discuss your rotation goals, objectives, strategies, as well as any schedule requests.

• Review EPIC

  • Clinics. CG ACC Genetics. CG ACC NF.

  • Inpatient/consult service

    • EPIC Systems lists > =CG Resident Treatment Teams > CG genetics

• Individual Study

  • Genetics Individual Study Resources

• White coat: optional

• Ambiguous genitalia

• Developmental Delay

• Fragile X Syndrome

• Ehlers-Danlos syndrome

• Fetal Alcohol Syndrome

• Marfan’s syndrome

• Neurofibromatosis

• Metabolic Disorders

• Trisomy 13

• Trisomy 18

• Trisomy 21 (Down’s syndrome)

• Tuberous Sclerosis Complex

• Turner’s syndrome

*Priority diagnoses you are likely to see in each clinic session in bold

• Observed patient encounter: problem based encounter possible

• Document required clerkship encounters (OASIS)

  • Problem based complaints

• Qualtrics self-assessment and formative feedback. Possible

By the end of your rotation, you will be working on a case report or abstract relating to an interesting case that you saw or a project that you began during the rotation, with a final goal of publishing or presenting (i.e. Pediatric Science Days) this work.

• After a brief orientation from faculty, you will observe the genetic counselor obtain new or interim histories from a patient/caregiver. Further in your rotation, at the discretion of the counselor and physician, you may be asked to obtain these histories independently. You will then perform an exam (except breast and genital exam and Tanner staging) without the supervising physician being present. You will develop an assessment and plan independently and then present to the supervising physician. You will go back into the patient room with the attending and genetic counselor, finish the exam, and discuss the assessment and plan with the patient and caregiver. Afterwards, document your encounter with a note in EPIC.

• Many initial visits take as long as an hour to complete, therefore, the student will often see only 2-3 patients in a clinic session.

• Metabolic Genetics Clinic

  • Mondays AM and PM

  • ACC 1^st floor. Work room 1076 is in the front corner of the yellow hall, directly behind the registration desk.

  • EPIC: CG ACC Genetics

• General Genetics Clinic

  • Tuesdays AM and PM

  • ACC 1^st floor. Work room 1076 is in the front corner of the yellow hall, directly behind the registration desk.

  • EPIC: CG ACC Genetics

• Neurofibromatosis Clinic

  • 1st, 3^rd, and 5th Wed of the month, AM

  • ACC 1^st floor

  • EPIC: CG ACC NF

• Marfan Syndrome Clinic

  • 1st Friday of the month, AM

  • Dallas Heart Center, West Tower, Ground Floor

  • EPIC: CG Marfan

• Illinois Outreach clinic

  • Clinic site alternates between months; Fayette County Health Department on odd months, Jefferson County Health Department on even months

  • Clinic occurs 4th Wednesday of every month (except November and December-- check date for those months with Hailey Pinz)

Clinical team and learner(s) meet at CG at 8am and ride together, returning to CG at 5pm. Please pack a lunch.

• Seeing new consults is a great opportunity to take a history, perform a thorough physical exam, and to work on an assessment, differential, and recommendations. Dr. Braddock and/or the genetic counselor on daily rotating call will let you know about any consults that might come during your time on genetics

• Document a consult (initial or follow up) for each encounter

• Route note to the supervising physician (attending)

• End each note with: “Discussed with Dr. Braddock (attending)” so the team knows that they can act on plan.

• Support your recommendations citing primary literature, review article, or a textbook.

Fetal Care Multidisciplinary Meeting

• Thursdays 12-1

• Fetal Care Institute Conference Room

• Multidisciplinary discussion of ongoing cases in the Fetal Care Institute with neonatology, genetics, maternal-fetal medicine, surgery, urology, neurosurgery participating

Metabolic Rounds

• Thursdays, 1:30pm-2:30pm with exception of 1st Thursday, which is 2:30-3:30)

• Husmann Conference room

• Metabolic patients for the upcoming week are discussed

Student performance evaluations are assigned to Hailey Pinz who completes them based on her own experience as well as feedback from the team.

• Review physical exam findings of common chromosomal abnormalities

• Review connective tissue diseases and hypermobility

• Brush up on developmental milestones

• Be as non-judgmental as possible. The history is often very detailed with personal questions about family history that may be uncomfortable for the patient to answer. Remind them that these questions are to better understand the genetic aspects of various conditions, predispositions to other conditions in future generations and can help lead to a more complete prognosis.

• Recent changes

  • Genetics elective restarted in academic year ‘20-21 after being on hold

  • Interested pediatric clerkship and career exploration (CE-PED 302) students are able to spend 1-2w with genetics after discussion with course director

• Planned projects

• We welcome additional ideas and student involvement!