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Step 1.a: Review Collected Data—Personal, Ancillary, Laboratory, and Physical Examination
Step 1 of the genetic/genomic risk assessment process requires data collection through history-taking, physical examination, and review and interpretation of additional data (e.g., radiology, laboratory), if applicable. Data collection is an ongoing process that begins at the first clinic visit and then is updated through subsequent health provider and patient encounters. The personal history is used in conjunction with the family history as the major sources of risk assessment. An accurate in-depth assessment integrated with the physical exam provides a powerful tool for determining risk and preventing, diagnosing, and/or managing disease risk or disease occurrence. For the remainder of the book, we refer to the assessment process as the genomic risk assessment.
Objectives
1. Describe Step 1.a of the genetic/genomic risk assessment
2. Discuss how the physical examination may aid in identifying certain genetic conditions
44Advanced practice registered nurses (APRNs) learn early in their nursing career to take an in-depth personal, family, social, and environmental history—including collection of behavioral and ancillary data—as part of the assessment process. The assessment is a systematic, deliberative, and interactive process based on data collection, validation, analysis, and synthesis for making decisions about the health status of individuals, families, and/or communities (Benner, Hughes, & Stuphen, 2008; Bickley & Szilagyi, 2013). The need for an in-depth assessment is equally important in the genomic risk assessment process. In the genomic risk assessment, the process is important for early recognition of patterns of inheritance or identification of elements in the history that may denote a present genetic disorder or a genetic predisposition for a disease. The genomic risk assessment has implications for clinical practice and risk management with regard to early diagnosis that can be of prophylactic value, more efficacious treatment for disease, and determination of the need for genetic testing for disease diagnosis and prognosis, as well as the need for monitoring disease progress. The genomic risk assessment may also provide information of familial risks or conditions that may occur in multiple family members, which, although not due to a single-gene disorder, may be important in management of care to reduce individual disease risk through behavioral change, chemoprevention, or enhanced surveillance for early diagnosis.
Personal History
A detailed personal history assessment must be conducted to determine genomic risk for disease occurrence. Essential information includes the following: (a) race/ethnicity; (b) ancestry of origin if known; (c) current age; (d) detailed medical and surgical history with age of disease onset and/or date of surgery; (e) present and past medications including over-the-counter (OTC) meds; (f) significant therapies; (g) history of genetic testing including type, dates, and findings; and (h) complete gynecological/reproductive and obstetrical history. Because the genomic risk assessment may involve issues related to cancer, a personal history of cancer should be obtained, if applicable, that includes the age of onset of cancer, type of cancer, pathology reports, exposure to carcinogens, reproductive history, hormone or oral contraceptive use, and surgical history including specific reason for surgery (e.g., hysterectomy for fibroids vs. cancer). Any history of chemoprevention and/or risk-reducing surgery (e.g., total abdominal hysterectomy 45and salpingo-oophorectomy due to a confirmed history of Lynch syndrome) should also be part of the personal history (National Comprehensive Cancer Network [NCCN], 2016). These same principles apply to all disorders dependent upon the disease/s noted in families; the data required may differ according to the family disease predisposition (e.g., heart disease and EKG; mental illness and psychiatric evaluation). Because many genetic disorders are syndromic—that is, they have more than one identifying feature, symptom, or disease associated with the disorder—it is critical that all personal data collected are reviewed and synthesized for patterns to aid in interpretation of potential genetic conditions and the determination of need to counsel or refer the patient for possible genetic testing.
Behavioral data like sexual history, smoking, and illegal drug and alcohol use should also be included in the personal history as certain exposures can impact the risk of many diseases and knowledge of behavioral data can aid in diagnosis or exaggerate certain known genetic, familial, or chronic conditions (e.g., nicotine use and cardiovascular diseases). Environmental factors like radiation exposure may increase the risk for certain conditions, particularly some cancers. Ancillary data such as laboratory, radiology, and other screening or diagnostic tests should be included in the history, noting the dates of testing and specific results as these data can provide crucial information regarding genetic disorders and genetic predisposition. For instance, the record of an individual with a history of colon polyps identified via a colonoscopy should include the type and number of polyps as a certain type and number of polyps can be suspect for inherited colon cancer syndromes (see Chapter 11 on cancer risk assessment). Similarly, certain types of breast cancer or a history of bilaterality (e.g., synchronous defined as a history of two [or more] breast cancers identified at the same time or within 6 months after the first, and is considered a “new” breast cancer and not metastatic; or metachronous contralateral defined as a “new” breast cancer diagnosed more than 6 months following the first cancer in the opposite breast) may be red flags that are suspect for inherited breast cancer syndromes, particularly when an early age of onset and/or family history of the disease are also present (Padmanabhan, Subramanyan, & Radhakrishna, 2015; Varsha, Manveen, Amar, & Anju, 2016). Extreme or unusual laboratory findings may also indicate a genetic disorder. For instance, familial hypercholesterolemia, an autosomal dominant (AD) genetic disorder, is associated with elevated low-density lipoprotein (LDL) levels (190 mg/dL in adults). A number of physical characteristics may also be observed in the condition (e.g., tendon 46xanthomas, corneal arcus younger than age 45 years; Youngblom, Pariani, & Knowles, 2016). Individuals with familial hypercholesterolemia are at risk for early age onset of death due to cardiac disease. Assessment of any prior genetic testing including the type/name of the test and test results should also be obtained from the personal history, as well as inquiry for any known genetic mutation in the family.
Physical Examination
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