Examkin

Soru

Zorluk: OrtaPreventive Care and Screening

A 36-year-old woman comes to the clinic for a routine health maintenance examination. She feels well and has no specific complaints. Her medical history is unremarkable, and she takes no daily medications. She is a lifelong non-smoker and drinks alcohol occasionally in social settings. Her last cervical cancer screening with a Papanicolaou (Pap) test and human papillomavirus (HPV) co-testing was 3 years ago and the results were normal. During the visit, the patient expresses anxiety about her cancer risk. She reports that her maternal aunt was diagnosed with breast cancer at age 48, and her maternal grandmother was diagnosed with ovarian cancer at age 62. The patient asks if she should undergo genetic testing for a hereditary cancer syndrome. Vital signs are within normal limits. Physical examination, including a clinical breast examination, reveals no abnormalities. Which of the following is the most appropriate next step in management?

  1. Administer a brief familial risk assessment toolCevap
  2. B
    Refer the patient directly for BRCA1 and BRCA2 genetic testing
  3. C
    Reassure the patient and advise initiating screening mammography at age 40
  4. D
    Order a serum CA-125 level and transvaginal ultrasound
  5. E
    Schedule the patient for a screening breast magnetic resonance imaging

Cevap

Administer a brief familial risk assessment tool
The correct next step is to administer a brief familial risk assessment tool. This patient has a family history that is highly suspicious for a hereditary cancer syndrome (breast cancer in a relative under age 50 and a relative with ovarian cancer). The United States Preventive Services Task Force (USPSTF) recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer using an appropriate brief familial risk assessment tool (e.g., the Ontario Family History Assessment Tool, Pedigree Assessment Tool, or FHS-7). If the tool indicates a positive result, the patient should then be referred for formal genetic counseling, and if indicated post-counseling, genetic testing. Proceeding directly to genetic testing or advanced imaging without this systematic assessment violates standard sequencing of preventive care.

Adım Adım Çözüm

1
Evaluate the patient's family history for hereditary cancer risk factors.
The patient has a second-degree relative with ovarian cancer and a second-degree relative with early-onset breast cancer (diagnosed before age 50).
Identifying high-risk family history is the critical first step in determining the need for specialized genetic screening and altering routine preventive care.
2
Apply the appropriate evidence-based guideline for the identified risk profile.
The USPSTF recommends a specific stepwise approach for women with a personal or family history associated with an increased risk for BRCA1/2 gene mutations.
Guidelines dictate the specific sequence of interventions to ensure appropriate patient selection, maximize benefit, and minimize psychological distress from unnecessary testing.
3
Determine the next sequential clinical intervention.
The required first intervention is administering a brief familial risk assessment tool.
A validated clinical tool must be used to formally quantify risk; if the result is positive, the patient is then referred for genetic counseling, which must precede any actual genetic testing.

Anahtar Kavram

The initial management of a patient with a family history suggestive of a BRCA1/2 mutation is the administration of a brief familial risk assessment tool, not immediate genetic testing.
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Konular

Preventive Care and Screening

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