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Genetic Counseling Resources: Asking Questions

Resources for students in the Genetic Counseling Program

Types of Questions

  1. Background Questions

       Ask for general knowledge about a disorder

  • Who, What, Why, When, Where, How
  • Answered by textbooks
    1. Foreground Questions

      Ask for specific knowledge about managing patients with a disorder

  • New knowledge
  • Answered by research articles

Test Your Search Skills

Condition: 48.XXYY

  • Find basic clinical and scientific information about XXYY   
  • Find an active clinical trial related to x or y chromosome variations
  • Find a hospital in Colorado providing care related to X and Y chromosome variations
  • Find a Colorado nonprofit that works with parents, encourages research, and provides support to individuals with XXYY
  • Find a blog that provides insight into raising XXYY children

General Tips

Ask answerable questions

  • Ask background questions in clinical resources (when you need quick factual information or recommendations for care)
  • Ask foreground questions using PubMed clinical queries (when you need research journal articles because there are no guidelines for care)

Identify what type of question you are asking - are you seeking?:

  • disease information (diagnosis, treatment,, prognosis)
  • evidence based recommendation
  • patient education materials

Use the worksheet below to help refine your search questions


Breaking a question into components is a good way to ask an answerable question. We recommend using the PICO(TT) system:

Use these concepts to develop your search terms:

P (patient/problem) - what condition are you concerned with?

I (intervention) - what treatment are you thinking of using?

C (comparison) - What the intervention is being compared to

O (outcome) - mortality? lab values? quality of life?

After searching, you can limit

T (type of question) - diagnosis, etiology, therapy

T(type of study) - RCT, cohort, case control, case study, cross sectional


A woman is referred to genetic counseling as she has always been concerned about getting pregnant.  When the genetic counselor asks what concerns her, she discloses that her younger brother had part of his intestine removed when he was an infant.  He has a learning disability that the patient has always associated with the intestinal surgery.  Following the counseling session the genetic counselor is able to review the records from the patient’s brother.  He did have Hirschsprungs disease (HSCR) and the aganglionsis extended proximal to the sigmoid colon (i.e. long-segment disease).   He was also found to have pigmentary retinopathy and postaxial polydactyly.   No genetic testing was performed on the patient’s brother.