TABLE 1

Collaborative Aims, Definitions, and Median Patient Records Reviewed per Practice per Month

AimNumeratorDenominatorMedian Records Reviewed or Patients in Registry per Practice per Month (IQR)
Diagnosis of children with genetic disordersa
 Family histories are created/maintained at health supervision visits documenting all componentsbRecord documentation of family history including all componentsPatients whose records were reviewed10 (9–12)
 Current family histories are discussed with patient/family, both positives and negativesRecord documentation that a current family history was discussed with patient/familyPatients who complete/update a family history and whose records were reviewed9 (6–10)
 Follow-up plans are documented for patients with a positive family history or signs of genetic conditionRecord documentation of discussion with patient/families regarding follow-up planPatients who have a positive family history or identified concern and whose records were reviewed3c (1–8)
 Patients needing genetic laboratory test or referred to geneticist or other service are entered into a registry or referral tracking mechanismDocumentation of patients in registry or referral tracking mechanismPatients who required a genetic laboratory test or referral to geneticist or other service and whose records were reviewed0c (0–1)
Management of children with genetic disordersd
 Patients with genetic disorders have up to date age-appropriate health supervision visitsRecord documentation of patients receiving age-appropriate health supervision visitsPatients with defined genetic disorders entered into the clinic’s registrye94.5 (31–235.75)
 Patients with specific genetic disorders that have existing disorder-specific health supervision guidelines receive the specified care1624Record documentation of health supervision guidelines followed for patients with specific genetic disorders that have existing disorder-specific health supervision guidelinesPatients with defined genetic disorders entered into the clinic’s registrye16 (2.75–32)
 Patients with genetic disorders have next steps of care and planned follow-upRecord documentation of next steps of care and planned follow-up at last visitPatients with defined genetic disorders entered into the clinic’s registry94.5 (31–235.75)
 Patients with genetic disorders who require an emergency plan to prevent catastrophic illness have a plan requested from the specialist and placed in the chart, at least annuallyRecord documentation that an annual emergency plan was requested from the specialist and placed in the recordPatients with defined genetic disorders entered into the clinic’s registrye3c (0–7)
 Patients with genetic disorders are offered genetic services at least initiallyRecord documentation of genetic services offered to the patient/family at least initiallyPatients with defined genetic disorders entered into the clinic’s registry94.5 (31–235.75)
 Patients with genetic disorders older than 11 y old receive resources and discussion about transition to adult care at least annuallyRecord documentation of discussion about transition to adult care and transition resources offered at least annuallyPatients with defined genetic disorders entered into the clinic’s registry older than 11 y old30 (5.75–63.25)
 Patients with genetic disorders have a discussion about palliative care at least annually when appropriateRecord documentation of palliative care discussion at least annually when appropriate for the patientPatients with defined genetic disorders entered into the clinic’s registrye0c (0–2)
  • IQR, interquartile range.

  • a All numerators and denominators involved patients 0 to 21 y old seen for health supervision visits.

  • b Required family history components included discussion and documentation of the following: (1) parents, siblings, aunts/uncles, first cousins, and grandparents; (2) medical conditions present in 2 or more family members; (3) ethnicity; (4) consanguinity; (5) any caregiver/patient concerns about family history; (6) incomplete knowledge of family history (eg, adoptions, estrangement, etc); and (7) specific questions about family members with: birth defects, cancer (<50 y old), carriers of genetic disorders, blood disorders, developmental delay, intellectual disability, early death (<50 y old), heart attack <55 y old for men and <65 y old for women, known genetic condition, multiple miscarriages/stillbirths, special education services, and seizures.

  • c These aims were excluded from final analyses because the median number of records reviewed or patients include in registries was <5 per practice per month.

  • d All numerators and denominators involved patients 0 to 21 y old.

  • e Practices were encouraged to use a predefined list of ICD-9 genetic disorders (Supplemental Information) but could create a local version pertinent to their clinic setting. They reported on the number of these patients who met collaborative aims each month, regardless if they were seen in clinic that month.