Family History

The Comprehensive Adult Health History

April 16, 2017 Clinical Skills, EHR/EMR, History Taking, Practice No comments , , , ,

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Initial Information

Data and Time of History

The date is always important. Be sure to document the time you evaluate the patient, especially in urgent, emergent, or hospital setitngs.

Identify Data

These include age, gender, marital status, and occupation. The source of history or referral can be the patient, a family member or friend, an officer, a consultant, or the clinical record. Identifying the source of referral helps you assess the quality of the referral information, questions you may need to address in your assessment and written response.

Reliability

Document this information, if relevant. This judgment reflects the quality of the information provided by the patient and is usually made at the end of the interview. For example, “The patient is vague when describing symptoms, and the details are confusing,” or, “The patient is a reliable historian.”

Chief Complaint(s)

Make every attempt to quote the patient’s own words. For example, “My stomach hurts and I feel awful.” If patients have no specific complaints, report their reason for the visit, such as “I have come for my regular check-up” or “I’ve been admitted for a thorough evaluation of my heart.”

Present Illness

This Present Illness is a complete, clear, and chronologic description of the problems promoting the patient’s visit, including the onset of the problem, the setting in which it developed, its manifestations, and any treatments to date.

  • Each principal symptoms should be well characterized, and should include the seven attributes of a symptom: 1) location; 2) quality; 3) quantity or severity; 4) timing, including onset, duration, and frequency; 5) the setting in which it occurs; 6) factors that have aggravated or relieved the symptom; 7) associated manifestations. It is also important to query the “pertinent positives” and “pertinent negatives” drawn from sections of the Review of Systems that are relevant to the Chief Complaint(s). The presence or absence of these additional symptoms helps you generate the differential diagnosis, which includes the most likely and, at times, the most serious diagnoses, even if less likely, which could explain the patient’s condition.
  • Other information is frequently relevant, such as risk factors for coronary artery disease in patients with chest pain, or current medications in patients with syncope.
  • The Present Illness should reveal the patient’s response to his or her symptoms and what effect the illness has had on the patient’s life. Always remember, the data flow spontaneously from the patient, but the task of oral and written organization is yours.
  • Patients often have more than one symptoms or concern. Each symptom merits its own paragraph and a full description.
  • Medications should be noted, including name, dose, route, and frequency of use. Also, list home remedies, nonprescription drugs, vitamins, mineral or herbal supplements, oral contraceptives, and medicines borrowed from family members or friends. Ask patients to bring in all their medications so that you can see exactly what they take.
  • Allergies, including specific reactions to each medication, such as rash or nausea, must be recorded, as well as allergies to foods, insects, or environmental factors.
  • Note tobacco use, including the type. Cigarettes are often reported in pack-years. If someone has quit, note for how long.
  • Alcohol and drug use should always be investigated and is often pertinent to the Present Illness.

Past History

  • Childhood illnesses: These include measles, rubella, mumps, whooping cough, chickenpox, rheumatic fever, scarlet fever, and polio. Also included are any chronic childhood illnesses.
  • Adult illnesses: Provide information relative to adult illnesses in each of the four areas: 1) medical: illnesses such as diabetes, hypertension, hepatitis, asthma, and human immunodeficiency virus; hospitalizations; number and gender of sexual partners; and risk-taking sexual practices; 2) surgical: dates, indications, and types of operations; 3) obstetric/gynecologic: obstetric history, menstrual history, methods of contraception, and sexual function; 4) psychiatric: illness and time frame, diagnoses, hospitalizations, and treatments.

Family History

Under family history, outline or diagram the age and health, or age and cause of death, of each immediate relative including parents, grandparents, siblings, children, and grandchildren. Review each of the following conditions and record whether they are present or absent in the family: hypertension, coronary artery disease, elevated cholesterol levels, stroke, diabetes, thyroid or renal disease, arthritis, tuberculosis, asthma or lung disease, headache, seizure disorder, mental illness, suicide, substance abuse, and allergies, as well as symptoms reported by the patient. Ask about any history of breast, ovarian, colon, or prostate cancer. Ask about any genetically transmitted diseases.

Personal and Social History

The personal and social history captures the patient’s personality and interests, sources of support, coping style, strengths, and concerns. It should include occupation and the last year of schooling; home situation and significant others; sources of stress, both recent and long-term; important life experiences such as military service, job history, financial situation, and retirement; leisure activities; religious affiliation and spiritual beliefs; and activities of daily living. Baseline level of function is particularly important in older or disabled patients. The personal and social history includes lifestyle habits that promote health or create risk, such as exercise and diet, including frequency of exercise, usual daily food intake, dietary supplements or restrictions, and use of coffee, tea, and other caffeinated beverages, and safety measures, including use of seat belts, bicycle helmets, sunblock, smoking detectors, and other devices related to specific hazards. Include sexual orientation and practices and any alternative health care practices. Avoid restricting the personal and social history to only tobacco, drug, and alcohol use. An expanded personal and social history personalizes your relationship with the patient and builds rapport.

Review of Systems

  • General: Usual weight, recent weight change, clothing that fits more tightly or loosely than before, weakness, fatigue, or fever.
  • Skin: Rashes, lumps, sores, itching, dryness, changes in color; change in hair or nails; changes in size or color of moles.
  • HEENT: 1) head: headache, head injury, dizziness, lightheadedness; 2) eyes: vision, glasses or contact lenses, last examination, pain, redness, excessive tearing, double or blurred vision, spots, specks, flashing lights, glaucoma, cataracts; 3) ears: hearing, tinnitus, vertigo, earaches, infection, discharge. If hearing is decreased, use or nonuse of hearing aids; 4) nose and sinuses: frequent colds, nasal stuffiness, discharge, or itching, hay fever, nosebleeds, sinus trouble; 5) throat: condition of teeth and gums, bleeding gums, dentures, if any, and how they fit, last dental examination, sore tongue, dry mouth, frequent sore throats, hoarseness.
  • Neck: “Swollen glands,” goiter, lumps, pain, or stiffness in the neck.
  • Breasts: Lumps, pain, or discomfort, nipple discharge, self-examination practices.
  • Respiratory: Cough, sputum (color, quantity; presence of blood or hemoptysis), shortness of breath (dyspnea), wheezing, pain with a deep breath (pleuritic pain), last chest x-ray. You may wish to include asthma, bronchitis, emphysema, pneumonia, and tuberculosis.
  • Cardiovascular: “Heart trouble”; high blood pressure; rheumatic fever; heart murmurs; chest pain or discomfort; palpitations; shortness of breath; need to use pillows at night to ease breathing (orthopnea); need to sit up at night to ease breathing (paroxysmal nocturnal dyspnea); swelling in the hands, ankles, or feet (edema); results of past electrocardiograms or other cardiovascular tests.
  • Gastrointestinal: Trouble swallowing, heartburn, appetite, nausea. Bowel movements, stool color and size, change in bowel habits, pain with defecation, rectal bleeding or black or tarry stools, hemorrhoids, constipation, diarrhea. Abdominal pain, food intolerance, excessive belching or passing of gas. Jaundice, liver, or gallbladder trouble; hepatitis.
  • Peripheral vascular: Intermittent leg pain with exertion (claudication); leg cramps; varicose veins; past clots in the veins; swelling in calves, legs, or feet; color change in fingertips or toes during cold weather; swelling with redness or tenderness.
  • Urinary: Frequency of urination, polyuria, nocturia, urgency, burning or pain during urination, blood in the urine (hematuria), urinary infections, kidney or flank pain, kidney stones, ureteral colic, suprapubic pain, incontinence; in males, reduced caliber or force of the urinary stream, hesitancy, dribbling.
  • Genital: Male: Hernias, discharge from or sores on the penis, testicular pain or masses, scrotal pain or swelling, history of sexually transmitted infections and their treatments. Sexual habits, interest, function, satisfaction, birth control methods, condom use, and problems. Concerns about HIV infection. Female: Age at menarche, regularity, frequency, and duration of periods, amount of bleeding; bleeding between periods or after intercourse, last menstrual period, dysmenorrhea, premenstrual tension. Age at menopause, menopausal symp- toms, postmenopausal bleeding. If the patient was born before 1971, exposure to diethylstilbestrol (DES) from maternal use during pregnancy (linked to cervical carcinoma). Vaginal discharge, itching, sores, lumps, sexually transmitted infec- tions and treatments. Number of pregnancies, number and type of deliveries, number of abortions (spontaneous and induced), complications of pregnancy, birth-control methods. Sexual preference, interest, function, satisfaction, any problems, including dyspareunia. Concerns about HIV infection.
  • Musculoskeletal: Muscle or joint pain, stiffness, arthritis, gout, backache. If present, describe location of affected joints or muscles, any swelling, redness, pain, tenderness, stiffness, weakness, or limitation of motion or activity; include timing of symptoms (e.g., morning or evening), duration, and any history of trauma. Neck or low back pain. Joint pain with systemic symptoms such as fever, chills, rash, anorexia, weight loss, or weakness.
  • Psychiatric: Nervousness, tension, mood, including depression, memory change, suicidal ideation, suicide plans or attempts. Past counseling, psycho- therapy, or psychiatric admissions.
  • Neurologic: Changes in mood, attention, or speech; changes in orientation, memory, insight, or judgment; headache, dizziness, vertigo, fainting, black- outs; weakness, paralysis, numbness or loss of sensation, tingling or “pins and needles,” tremors or other involuntary movements, seizures.
  • Hematologic: Anemia, easy bruising or bleeding, past transfusions, transfusion reactions.
  • Endocrine: “Thyroid trouble,” heat or cold intolerance, excessive sweating, excessive thirst or hunger, polyuria, change in glove or shoe size.

Supplement Documents

Principle Symptoms

  • Abdominal pain
  • Acid-base abnormalities
  • AIDS/HIV infection
  • Anemia
  • Back pain
  • Bleeding disorders
  • Chest pain
  • Cough, fever, and respiratory infections
  • Delirium and dementia
  • Diabetes
  • Diarrhea, acute
  • Dizziness
  • Dyspnea
  • Dysuria
  • Edema
  • Fatigue
  • GI bleeding
  • Headache
  • Hematuria
  • Hypercalcemia
  • Hypertension
  • Hyponatremia and hypernatremia
  • Hypotension
  • Jaundice and abnormal liver enzymes
  • Joint pain
  • Kidney injury, acute
  • Rash
  • Sore throat
  • Syncope
  • Weight loss, unintentional
  • Wheezing and stridor

[Hemostasis] General – Diagnostic Approach to the Bleeding Disorders

November 21, 2016 Clinical Skills, Hematology No comments , , , , , , , , , , , , , ,

screen-shot-2016-10-10-at-10-38-16-amClinical Presentations and Clinical Distinction Between Platelet- or Vessel-Induced Bleeding and Coagulation-Induced Bleeding

Certain signs and symptoms are virtually diagnostic of disordered hemostasis. They can be divided arbitrarily into two groups: those seen more often in disorders of blood coagulation and those most commonly noted in disorders of the vessels and platelets. The latter group is often called purpuric disorders because cutaneous and mucosal bleeding usually are prominent. The clinical findings that are most valuable in distinguishing between these two broad categories are summarized in Table 45.1. Although these criteria are relative, they provide valuable clues to the probable diagnosis if they are applied to the predominant clinical features in a given patient.

Bleeding into Skin and Soft Tissues

Petechiae are characteristic of an abnormality of the vessels or the platelets and are exceedingly rare in the coagulation disorders. These lesions are small capillary hemorrhages ranging from the size of a pinhead to much larger. They characteristically develop and regress in crops and are most conspicuous in areas of increased venous pressure, such as the dependent parts of the body and areas subjected to pressure or constriction from girdles or stockings. Petechiae must be distinguished from small telangiectasias and angiomas. Vascular structures such as telangiectasias or angiomas blanch with pressure, whereas petechiae do not.

Hemarthrosis

Hemorrhage into synovial joints is virtually diagnostic of a severe inherited coagulation disorder, most commonly hemophilia A or hemophilia B, and is rare in disorders of the vessels and platelets or in acquired coagulation disorders. This disabling problem often develops with pain and swelling as chief symptoms but without discoloration or other external evidence of bleeding. Subperiosteal hemorrhages in children with scurvy and swollen painful joints that may developin some patients with allergic purpura occasionally may be confused with hemarthrosis.

Traumatic Bleeding

The unavoidable traumas of daily life and even minor surgical procedures are a greater challenge to hemostasis than any test yet developed in the laboratory. In contrast to "spontaneous" bleeding manifestations, bleeding after trauma in a person with a hemorrhagic diathesis differs in a quantitative way from that which would normally be expected in terms of the amount, duration, and magnitude of the inciting trauma. Such variables are extremely difficult to assess accurately by taking the patient's history. The need for transfusions and the number administered may serve as a rough guide. The patient's statement concerning the duration of bleeding is more reliable.

In individuals with a coagulation disorder, the onset of bleeding after trauma often is delayed. For example, bleeding after a tooth extraction may stop completely, only to recur in a matter of hours and to persist despite the use of styptics, vasoconstrictors, and packing. The temporary hemostatic adequacy of the platelet plug despite defective blood coagulation may explain this phenomenon of delayed bleeding, as well as the fact that patients with coagulation disorders seldom bleed abnormally from small superficial cuts scuh as razor nicks. In contrast, posttraumatic or postoperative surgical bleeding in thrombocytopenic patients usually is immediate in onset, as a rule responds to local measures, and rarely is as rapid or voluminous as that encountered in patients with coagulation disorders. However, it may persist for hours or days after surprisingly small injuries.

Anyway, the response to trauma is an excellent screening test for the presence of an inherited hemorrhagic disorder, and a history of surgical procedures or significant injury without abnormal bleeding is equally good evidence against the presence of such a disorder.


Clinical Features of Inherited and Acquired Bleeding Disorders

An inherited bleeding disorder is suggested by the 1) onset of bleeding symptoms in infancy and childhood, 2) a positive family history (particularly if it reveals a consistent genetic pattern), and 3) laboratory evidence of a single or isolated abnormality, most commonly the deficiency of a single coagulation factor.

Birth and the neonatal period provide unique challenges to the hemostatic mechanism, and bleeding during the first month of life often is the first evidence of an inherited disorder of hemostasis. Small cephalohematomas and petechiae are common in tne newborn as a result of the trauma of delivery. Large cephalohematomas that progressively increase in size may result from hemophilia but are more common in association with acquired bleeding disorders such as hemorrhagic disease of the newborn. Bleeding from the umbilical stump and after circumcision is common in the acquired coagulation disorders, and it also occurs in the inherited coagulation disorders, with the exception of hypofibrinogenemia, dysfibrinogenemia, and factor XIII deficiency. The onset of bleeding from the umbilical cord may be delayed in these latter disorders. In the evaluation of bleeding in the neonate, the clinician should remember that hematochezia and hematemesis may originate from swallowed blood of maternal origin. Simple tests to distinguish such maternal blood from fetal blood have been described. It must be paid attention that manuy infants with inherited coagulation disorders do not bleed significantluy in the neonatal period. In such patients, the disorder may become clinically silent for a time. Hematomas may first be seen only when the child becomes active. Hemarthrosis commonly does not develop until a child is 3 or 4 years of age.

The family history is of great importance in the evaluation of bleeding disorders. In disorders inherited as autosomal dominant traits with characteristic symptoms and high penetrance, such as hereditary hemorrhagic telangiectasia, an accurate pedigree spanning several generations can often be obtained. The presence of typical bleeding manifestations in male siblings and maternal uncles is virtually diagnostic of X-linked recessive inheritance, which characterizes hemophilia A and hemophilia B. But, the limitations of the family history, however, are greater than is commonly realized. Hearsay history is difficult to evaluate, and it is often impossible to assess the significance of easy bruising or to differentiate between manifestations of a generalized bleeding disorder and more common localized lesions, such as peptic ulcer and uterine leiomyomas. A negative family history is of no value in excluding an inherited coagulation disorder in an individual patient. As many as 30% to 40% of patients with hemophilia A have a negative family history. The family history usually is negative in the autosomal recessive traits, and consanguinity, which is commonly prsent in these kindreds, is notoriously difficult to document or exclude.


Approach to the Patient W/ Excessive Bleeding

Excessive bleeding may occur in both male and female patients of all ages and ethnicities. Symptoms can begin as early as the immediate newborn period (uncommonly even in utero) or anytime or anytime thereafter. The bleeding symptoms experienced are related in large part to the specific factor and level of deficiency.

  • [Spontaneous or induced] Bleeding can be spontaneous; that is, without an identified trigger, or may occur after a hemostatic challenge, such as delivery, injury, trauma, surgery, or the onset of menstruation.
  • [Anatomic location(s)] Furthermore, bleeding symptoms may be confined to specific anatomic sites or may occur in multiple sites.
  • [Family history] Finally, bleeding symptoms may be present in multiple family members or may occur in the absence of a family history. All of this information is important to arrive at a correct diagnosis rapidly and with minimal yet correctly sequenced laboratory testing.

Thus, a detail patient and family history is a vital component of the approach to each patient with a potential bleeding disorder.

History

Obtaining a detail patient and family history is crucial regardless of prior laboratory testing. The history includes a detailed discussion of specific bleeding and clinical symptoms. Information regarding bleeding symptoms should include location, frequency, and pattern as well as duration both in terms of age of onset and time required for cessation.

Location

The location may suggest the part of the hemostatic system affected; patients with disorders of primary hemostasis (platelets and vWF) often experience mucocutaneous bleeding, including easy bruising, epistaxis, heavy menstrual bleeding, and postpartum hemorrhage in women of child-bearing age; whereas patients with disorders of secondary hemostasis (coagulation factor deficiencies) may experience deep-tissue bleeding, including the joints, muscles, and central nervous system.

Pattern and Duration

The bleeding pattern and duration of each episode, particularly for mucus membrane bleeding, assist in the determination of the likelihood of the presence of an underlying bleeding disorder.

Onset

The onset of symptoms can suggest the presence of a congential versus acquired disorder. Although congenital conditions can present at any age, it is more likely that patients with a long history of symptoms or symptoms that begin in childhood have a congenital condition, whereas patients whose onset occurs at an older age are more likely to have an acquired condition. Congenital clotting factor deficiencies that do not present until later in life do occur and include mild factor deficiencies and coagulation factor deficiencies associated with variable bleeding patterns, most notably FXI deficiency.

Other

Additional important information to be collected includes the current use of medications and herbal supplements, as these may affect the hemostatic system; the presence or absence of a family history of bleeding; a history of hemostatic challenges, including surgery, dental procedures, and trauma; and a menstrual history in females.

The goal at the end of the history is to establish the likelihood of a bleeding disorder, as this will guide the direction of the laboratory investigation. Quantification of clinical bleeding is a challenge, particularly in the outpatient setting. In recent years, several bleeding assessment tools (BAT) have been developed to more accurately differentiate bleeding phenotypes in healthy individuals and in patients with bleeding disorders. These tools, which were originally designed for assessing bleeding in von Willebrand disease (vWD) do not appear to be diagnostic and are in the process of being validated for the ability to screen other bleeding disorders. However, it is increasingly clear that a normal bleeding score rules out the presence of a bleeding disorder. Therefore, if the bleeding score is indicative of excessive bleeding, it should be followed by an evaluation of a hematologist to evaluate the need for further laboratory tests.

Screening Tests

  • Platelet count, PT, aPTT

The laboratory evaluation for bleeding includes performance of initial screening tests. The most common screening tests utilized include the platelet count, prothrombin time (PT), and activated partial thromboplastin time (aPTT). When the PT or aPTT is prolonged, mixing studies are required via a one-to-one mix of patient plasma with known normal standard plasma. Test correction in the mixing study indicates a deficiency state, whereas lack of correction indicates an inhibitor, either one directed against a specific factor or a a global inhibitor as best exemplified by a lupus anticoagulant. Specific factor analyses are performed after mixing studies reveal a correction of prolonged coagulation screening test(s) indicative of a deficiency state or in the face of normal screening tests with a positive history. Screening tests are not sensitive and do not evaluate all abnormalities associated with bleeding including vWF, FXIII, PAI-1, and 𝛼2AP deficiencies and may be insensitive to mild FVIII and FIX deficiencies; therefore, a patient history strongly suggestive of a bleeding disorder may warrant testing for such deficiencies, including rare abnormalities regardless of screening test results. The most common screening tests utilized include the platelet count, prothrombin time (PT), and activated partial thromboplastin time (aPTT). When the PT or aPTT is prolonged >10 seconds, mixing studies are required via a one-to-one mix of patient plasma with known normal standard plasma. Test correction in the mixing study indicates a deficiency state, whereas lack of correction indicates an inhibitor.

  • Platelet function

Screen tests also are utilized to identify individuals with a high likelihood of vWD or platelet disorders. The bleeding time, once widely used, has become obsolete because of the lack of sensitivity and specificity. The PFA-100 (platelet function analyzer) has been proposed to have a role in screening individuals with suspected platelet dysfunction or vWD. Initial studies demonstrated the efficacy of the PFA-100 in the evaluation of patients with known severe platelet disorders or vWD. The PFA-100 induces high shear stress and simulates primary hemostasis by flowing whole blood through an aperture with a membrane coated with collagen and either ADP or epinephrine. Platelets adhere to the collagen-coated surface and aggregate forming a platelet plug that enlarges until it occludes the aperture, causing cessation of blood flow. The time to cessation of flow is recorded as closure time (CT). The sensitivity and spcificity of the CT of the PFA-100 were reported as 90% for severe platelet dysfunction or vWD, with vWD plasma levels below 25%. The utility of the PFA-100 as a screening tool, however, has been challenged based on the reported low sensitivity (24%-41%) of the device in individuals with mild platelet secretion defect, mild vWD or storage pool disorders. Additionally, a significant limitation of the PFA-100 is the fact that the platelet count and hemoglobin levels affect the CT. The CT will be abnormal if the platelet count is less than 100,000/𝜇L and the hemoglobin is <10 g/dL.

Taking a Family History of cancer: We Can Do Better

June 25, 2012 Chemotherapy, Clinical Cases, Hematology, Therapeutics No comments , ,

June 7, 2012 (Chicago, Illinois) — Family history can be important in establishing risk for primary and secondary cancer and identifying people who might be candidates for genetic counseling and testing.

According to data presented here at the 2012 Annual Meeting of the American Society of Clinical Oncology (ASCO), community oncologists are better at documenting family history in patients with breast and colorectal cancer than expected, but there is still room for improvement.

“Family history is the best criteria we have right now to identify people who are at risk for hereditary cancer syndrome and are candidates for referral and genetic testing,” said lead author Marie Wood, MD, professor of medicine, director of the familial cancer program and deputy director of hematology/oncology at the University of Vermont in Burlington.

It is critical to identify people with an above-average risk for a primary cancer and who should get additional screening, she explained during a press briefing, where highlights of the study were presented. “Cancer survivors who have a strong family history should get above-average screening for the cancer they already had and for additional cancers,” Dr. Wood said.

The researchers found that age at cancer diagnosis within the family history was documented less than half the time,” Dr. Wood noted.

“This was more commonly documented for breast cancer than for colorectal cancer patients,” she said. “When we looked at the difference between breast and colon cancer patients, it was always statistically significant.

We can and should do better.

Overall, the researchers found a high rate of documentation of cancer in first-degree relatives, albeit with a low documentation of the age at cancer diagnosis. “Family-history taking is also clearly better for breast cancer patients than colon cancer patients. We are hoping to do more with this dataset to try to figure out why that is,” Dr. Wood explained. “We can and should do better.”

The patients who underwent genetic testing received good counseling, consent documentation, and a discussion of results. “But there were low rates of referral for both counseling and testing for those who would actually benefit from it,” she said.

Family History Defines Proper Treatment

“This is a multifaceted issue and this is the first national program to help practices improve,” said Nicholas Vogelzang, MD, chair of the ASCO Cancer Communications Committee and medical director at the US Oncology Comprehensive Cancer Centers of Nevada.

Dr. Vogelzang, who moderated the press briefing and who was not involved in the study, noted that taking a good family history “is fairly laborious” and can take up to an hour to complete. This is impractical for most community oncology practices; it is hoped that the process can be expedited with the Internet.

“It is surprising how little people know about their families,” he said. It is estimated that among patients with prostate, colon, and breast cancer, about 30% are at risk for genetically transmitted disease, he explained.

In the discussion that followed Dr. Wood’s presentation, Dr. Vogelzang emphasized the practical benefits of taking a family history. He illustrated his point with the case of one of his patients — a 48-year old man with metastatic prostate cancer who was not responding well to standard treatment. After taking a thorough family history, it was revealed that his mother, sister, and aunt had all died of breast cancer.

Dr. Vogelzang said that the presentation of the man’s cancer suggested BRCA gene mutations; he had metastases in the liver and adrenals, but the cancer had not entered the skeletal system. The patient was treated with a breast cancer chemotherapy regimen and he responded beautifully.

Study Details

Previous studies have demonstrated low rates of family-history documentation and low referral rates for genetic counseling and testing, according to the researchers. The Quality Oncology Practice Initiative (QOPI) was developed by ASCO “to promote excellence in cancer care by helping practices create a culture of self-examination and improvement.” QOPI uses measurement, feedback, and improvement tools for hematology/oncology practices.

Last year, ASCO began testing new QOPI measures to evaluate the practice of family-history taking and referral for genetic counseling and testing in patients with breast cancer or colorectal cancer, explained Dr. Wood. They assessed the presence or absence of cancer in first- and second-degree relatives, age at cancer diagnosis, referral for genetic testing and counseling, and outcomes of referral.

“Our group developed pilot test questions for breast cancer and color cancer patients” using “expert consensus and participation from ASCO prevention and quality committees,” she noted.

In September and October 2011, Dr. Wood and colleagues evaluated these measures in 272 practices (6569 patients with breast cancer and 3897 with colorectal cancer). In the charts of these patients, 77.4% documented the presence or absence of cancer in first-degree relatives (breast cancer in 81.2% and colorectal cancer in 77.4%; P = < .001).

In addition, 61.5% of the charts documented the presence or absence of cancer in second-degree relatives (breast cancer in 68.9% and colorectal cancer in 57.3%; P ≤ .001).

The age at cancer diagnosis was documented for all relatives with cancer in 30.7% of the charts, and referral for counseling and/or testing was documented in 22.1% of the charts (breast cancer in 29.1% and colorectal cancer in 19.6%; P ≤ .001).

For patients with hereditary risk, defined by selected risk guidelines, the charts of 52.2% of breast cancer patients but only 26.4% of colorectal cancer patients documented referral for genetic counseling and testing. When genetic testing was performed by the practice, consent was documented 77.7% of the time and discussion of the results was documented 78.8% of the time.

The authors have disclosed no relevant financial relationships.

2012 Annual Meeting of the American Society of Clinical Oncology: Abstract CRA1505. Presented June 4, 2012.