Clinical |

Cascade Testing Increases Cancer Prevention Choices

Washington, DC—Certain genetic mutations are now being identified in an increasing number of patients with ovarian, breast, endometrial and colon cancer. To effectively respond to patients who have been informed that they have a relative with a genetic mutation, ob-gyns should be aware of and incorporate cascade testing and counseling into their practices, according to a new Committee Opinion, "Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer," from the American College of Obstetricians and Gynecologists (ACOG).


Cascade testing is the performance of genetic counseling and testing in blood relatives of individuals who have been identified with specific genetic mutations. Cascade testing may include screening, counseling or referral for a patient with a relative who has tested positive for a genetic mutation. Screening, counseling or referral for patients with a family history or diagnosis of cancer, but whose affected relatives have not undergone genetic testing, is not considered cascade testing. To initiate cascade testing, an ob-gyn must have a letter or documentation stating that the patient’s relative has a specific genetic mutation. The specifically indicated test should be ordered only after the patient has been counseled about potential outcomes and has expressly decided to be tested.

“Ob-gyns have to be prepared for all of the steps in cascade testing,” said lead Committee Chair Kristen Matteson, M.D., M.P.H. “Most importantly, we must help patients navigate what is often a complex and emotional process. Patients may be confused by their own diagnosis or what it means to receive a letter informing them of a relative’s diagnosis. It’s vital that ob-gyns are prepared with information and resources to help women make informed and timely choices about available options and the appropriate next steps if further testing is desired.”

Once a patient receives their results, ob-gyns should be prepared to provide counseling on the findings and, when appropriate, recommend further testing and preventive services. The follow-up process may include a conversation about how patients with positive results should inform other family members who may share the mutation. With sensitivity and understanding, ob-gyns should encourage patients with a positive diagnosis to notify relatives of the familial risk. For patients who test positive for the genetic mutation in question, increased screening and interventions may save lives and improve health and quality of life.

At no point should a health care provider contact and notify at-risk family members without explicit permission from their patient. Sharing that information may violate the Health Insurance Portability and Accountability Act, state laws or both.

Despite the known health benefits, barriers to cascade testing exist. Even if tested, the index patient may not be emotionally or physically able to process the information or present it to his or her family members. Additionally, some patients may encounter logistical challenges to reaching estranged or distant relatives. To overcome these barriers, ob-gyns should encourage the use of standardized tools, such as the form letter in the Committee Opinion or health care provider letters.

Likewise, limited access to genetic counseling services, as well as perceived and real insurance coverage issues, may prevent timely completion of cascade testing. As a result, ob-gyns should be aware of and participate in public health efforts to standardize cascade testing and make it more widely accessible and affordable.

Committee Opinion #727, “Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer” will be published in the January issue of Obstetrics & Gynecology.

Other recommendations issued in the January Obstetrics & Gynecology

Committee Opinion #728, Müllerian Agenesis: Diagnosis, Management, and Treatment

Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500–5,000 females. Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90–96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.

Committee Opinion #729, Importance of Social Determinants of Health and Cultural Awareness in the Delivery of Reproductive Health Care

Awareness of the broader contexts that influence health supports respectful, patient-centered care that incorporates lived experiences, optimizes health outcomes, improves communication, and can help reduce health and health care inequities. Although there is little doubt that genetics and lifestyle play an important role in shaping the overall health of individuals, interdisciplinary researchers have demonstrated how the conditions in the environment in which people are born, live, work, and age, play equally as important a role in shaping health outcomes. These factors, referred to as social determinants of health, are shaped by historical, social, political, and economic forces and help explain the relationship between environmental conditions and individual health. Recognizing the importance of social determinants of health can help obstetrician–gynecologists and other health care providers better understand patients, effectively communicate about health-related conditions and behavior, and improve health outcomes.

Practice Bulletin #188, Prelabor Rupture of Membranes

Preterm delivery occurs in approximately 12% of all births in the United States and is a major factor that contributes to perinatal morbidity and mortality (1, 2). Preterm prelabor rupture of membranes (also referred to as premature rupture of membranes) (PROM) complicates approximately 3% of all pregnancies in the United States (3). The optimal approach to clinical assessment and treatment of women with term and preterm PROM remains controversial. Management hinges on knowledge of gestational age and evaluation of the relative risks of delivery versus the risks of expectant management (eg, infection, abruptio placentae, and umbilical cord accident). The purpose of this document is to review the current understanding of this condition and to provide management guidelines that have been validated by appropriately conducted outcome-based research when available. Additional guidelines on the basis of consensus and expert opinion also are presented.

Practice Bulletin #189, Nausea and Vomiting of Pregnancy

Nausea and vomiting of pregnancy is a common condition that affects the health of a pregnant woman and her fetus. It can diminish a woman’s quality of life and also significantly contributes to health care costs and time lost from work (1, 2). Because morning sickness is common in early pregnancy, the presence of nausea and vomiting of pregnancy may be minimized by obstetricians, other obstetric care providers, and pregnant women and, thus, undertreated (1). Furthermore, some women do not seek treatment because of concerns about the safety of medications (3). Once nausea and vomiting of pregnancy progresses, it can become more difficult to control symptoms. Treatment in the early stages may prevent more serious complications, including hospitalization (4). Safe and effective treatments are available for more severe cases, and mild cases of nausea and vomiting of pregnancy may be resolved with lifestyle and dietary changes. The woman’s perception of the severity of her symptoms plays a critical role in the decision of whether, when, and how to treat nausea and vomiting of pregnancy. Nausea and vomiting of pregnancy should be distinguished from nausea and vomiting related to other causes. The purpose of this document is to review the best available evidence about the diagnosis and management of nausea and vomiting of pregnancy.

The American College of Obstetricians and Gynecologists (The College), a 501(c)(3) organization, is the nation’s leading group of physicians providing health care for women. As a private, voluntary, nonprofit membership organization of more than 58,000 members, The College strongly advocates for quality health care for women, maintains the highest standards of clinical practice and continuing education of its members, promotes patient education, and increases awareness among its members and the public of the changing issues facing women’s health care. The American Congress of Obstetricians and Gynecologists (ACOG), a 501(c)(6) organization, is its companion organization.