What PAs should know before they refer patients to a genetic counselor

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					genomics0909.qxp        8/25/09       9:52 AM       Page 61




                               GENOMICS IN PA PRACTICE
                                                              E RY N N G O R D O N , M S , C G C



                                 What PAs should know before they
                                 refer patients to a genetic counselor
                 edical genetics is an evolving          would be at a 50% risk to inherit it as                Several months later the couple decid-

      M          field. Historically it encom-
                 passed only rare Mendelian
      disorders and chromosome abnormali-
                                                         well. Those who carry a BRCA muta-
                                                         tion have a 65% to 85% lifetime risk
                                                         of breast cancer1,2 and an 11% to 54%
                                                                                                                ed, for their daughters’ sake, to pro-
                                                                                                                ceed with testing.
                                                                                                                   After blood was drawn, the patient
      ties with multisystem phenotypes. Be-              lifetime risk of ovarian cancer.1,2                    made an appointment with the genetic
      cause of their medical complexity com-                The counselor offered genetic test-                 counselor to receive the results in per-
      bined with the risk to other family                ing to determine whether the patient                   son. Two days before that appoint-
      members and the psychosocial issues                carried a BRCA mutation. In addition                   ment, the patient called to cancel,
      that arise when dealing with issues of             to the implications for her daughters,                 explaining that she could not handle
      inheritance, these cases were best han-            a positive result would mean that the                  the information at that time. Several
      dled by geneticists and genetic coun-              patient herself was at increased risk                  follow-up calls and cancelled appoint-
      selors. Now, a growing number of dis-              for developing a second breast cancer                  ments later, she came in for her results.
      eases have been recognized as having               and/or ovarian cancer. Given the                       (Figure 1 shows her genetic pedigree.)
      a genetic basis, and relegating genetics           weight of this information, she and                    Though not surprised that she tested
      just to the geneticists and genetic coun-          her husband decided that they needed                   positive for a BRCA1 mutation, the
      selors has become more difficult. More-            to think about whether they were                       patient was devastated by the implica-
      over, identification of those aspects of           ready to know more and to share this                   tions this would have for her daugh-
      genetics that can be incorporated into             information while they were in the                     ters. The genetic counselor offered to
      primary care has become more impor-                midst of dealing with the current                      work with the patient to share this
      tant. Key to this process is identifying           breast cancer diagnosis and treatment.                 information with her daughters and
      when to refer a patient to a geneticist
      or a genetic counselor. Many factors
                                                                          Maternal Ancestry: Ashkenazi Jewish
      come into play, as demonstrated by the
      following case:                                                     Paternal Ancestry: Ashkenazi Jewish

      ›CASE STUDY                                                                              1           2
      A 50-year-old woman of Ashkenazi
      Jewish ancestry has been given a diag-                        I
      nosis of invasive breast cancer; her                                              d. 48 yo                76 yo
      mother died of breast cancer at 48 years,                                         Dx 45 yo
      and her sister’s ovarian cancer was diag-
      nosed at age 52. Based on that history,
      the woman was at risk of carrying a
      mutation in BRCA1 or BRCA2, the                                              1           2           3
      two genes known to cause hereditary                           II                                                             Invasive Breast Cancer
      breast and ovarian cancer syndrome.
                                                                                       54 yo    50 yo           53 yo
        After meeting with a genetic coun-                                                      Dx 50 yo        Dx 52 yo           Ovarian Cancer
      selor w
				
DOCUMENT INFO
Description: Historically it encompassed only rare Mendelian disorders and chromosome abnormalities with multisystem phenotypes. Because of their medical complexity combined with the risk to other family members and the psychosocial issues that arise when dealing with issues of inheritance, these cases were best handled by geneticists and genetic counselors.
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