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Cascade Testing: Notifying and Counseling Relatives of Individuals who are BRCA Mutation Carriers


Cascade testing is the process of identifying blood relatives of an individual with a potentially disease-causing mutation in genes such as BRCA1 or BRCA2. Relatives may have inherited the same mutation and may also be at risk. Cascade testing is an efficient way of finding individuals who would benefit from counseling and genetic testing, if they so choose.  If you have a patient who has received a report indicating that they are a carrier of a such a pathogenic variant, consider the following

  • Ensure the patient herself has obtained appropriate care and counseling
    • ACOG recommends that if a provider does not have the necessary genetic expertise, a referral should be made to genetic services and possibly medical and/or gynecologic oncologists
  • Any outreach to relatives of a patient should not come directly from the healthcare team without patient permission
    • Direct communication of your patient’s health information to a relative without permission may be in violation of HIPAA and/or state laws (see ‘Related ObG Topics’ below for more information)
  • Patients should be made aware that their findings may have significant consequences for other family members
    • ACOG states that tested patients “should be informed that they have a duty to notify relatives of the familial risk”
  • Be aware of potential barriers to family outreach by the patient including
    • The patient may be still be processing and making her own personal choices
    • There may be important family dynamics that need to be taken in to account
    • There may be logistical challenges such as knowing the location of family members
    • Financial concerns may delay or obstruct communication between patient and family due to worries regarding test reimbursement and medical costs


When someone has been identified as a carrier for a pathogenic mutation, there may be serious ramifications for blood relatives. Cascade testing has been shown to be a cost-effective and efficient way to identify other family members who may be at risk and make them aware of lifesaving options. HBOC and Lynch syndrome have been identified by the CDC as high priority syndromes for cascade testing.  There are other genetic syndromes such as Familial Hypercholesterolemia where interventions can be lifesaving and cascade testing may be helpful to family members.


Provide Support and Resources

  • Ensure patients have direct lines of communication to genetic counseling services if relatives, following notification, do want more information
  • Be aware of any ongoing state and professional programs that provide educational resources regarding genetic disorders, especially heritable cancer syndromes
  • ACOG provides a template for a letter that a provider can use to reach out to a family member following patient discussion/approval (see ACOG Committee Opinion in ‘Learn More – Primary Sources’ below)
  • Key highlights of relative communication include the following
    • Inform the family member as to the gene involved and the potential disorder
    • Explain that having a mutation does not necessarily always result in disease but it does mean that an individual who carries this variant is at higher risk
      • If providing overall lifetime risks for carriers, clarify that these are population based numbers and genetic counseling is required to personalize these risk figures
    • Apprise the family member that she may be a risk of having inherited this pathogenic mutation as well
      • In the case of autosomal dominant heritable cancer syndromes, that risk will be 50%
    • Clarify that aside from yourself, there are options including speaking to their own personal physician, a genetic counselor or other providers who may be of assistance
      • Good care requires a multi-disciplinary approach
    • Be prepared to share information about potential costs involved in genetic testing

Learn More – Primary Sources:

ACOG Committee Opinion 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer

HPV Vaccine Recommendations Including Guidance for Ages 27 to 45


The most recent evidence-based HPV vaccine recommendations address when to administer the vaccine and dosing.  One area that has elicited more recent guidance focuses on whether to offer the HPV vaccine to individuals over the age of 26.

  • The FDA (October 2018) extended approval of HPV vaccine to individuals age 27-45 years
  • ACIP (June 2019) voted to
    • Expand routine and catch-up HPV vaccination in males through 26 years of age who are inadequately vaccinated
    • Offer HPV vaccine to individuals age 27-45 years who have not been adequately vaccinated based on shared clinical decision making
  • ACIP published their final recommendations (August 2019) in the CDC’s Morbidity and Mortality Weekly Report

Children and adults aged 9 through 26 years: HPV vaccination is routinely recommended at age 11 or 12 years; vaccination can be given starting at age 9 years. Catch-up HPV vaccination is recommended for all persons through age 26 years who are not adequately vaccinated.

Adults aged >26 years: Catch-up HPV vaccination is not recommended for all adults aged >26 years. Instead, shared clinical decision-making regarding HPV vaccination is recommended for some adults aged 27 through 45 years who are not adequately vaccinated. HPV vaccines are not licensed for use in adults aged >45 years.

These recommendations for children and adults aged 9 through 26 years and for adults aged >26 years apply to all persons, regardless of behavioral or medical risk factors for HPV infection or disease.

For persons who are pregnant, HPV vaccination should be delayed until after pregnancy; however, pregnancy testing is not needed before vaccination.

Persons who are breastfeeding or lactating can receive HPV vaccine. Recommendations regarding HPV vaccination during pregnancy or lactation have not changed.

  • ACIP suggests considering the following points for shared-decision making with adults who are 27 to 45 years of age
    • HPV is very common, usually transient and asymptomatic
    • Although typically acquired in young adulthood, some adults are at risk for acquiring new HPV infection
    • A new sex partner is a risk factor, while those in long-term, mutually monogamous partnerships are not likely to acquire a new HPV infection
    • HPV types: Sexually active adults will likely have been exposed to some HPV types, but not all HPV types are vaccine targets
    • There is no antibody test to determine immunity
    • HPV vaccine has high efficacy in young persons not yet exposed to vaccine-type HPV
    • Lower vaccine effectiveness may be expected in those with HPV risk factors
      • Multiple lifetime sex partners | Previous infection with vaccine-type HPV | immunocompromising conditions
    • HPV vaccines are prophylactic only and can’t prevent infection progression, improve time to clearance or treat HPV-related disease
  • In summary, the CDC states

For adults aged 27 years and older, clinicians can consider discussing HPV vaccination with people who are most likely to benefit. HPV vaccination does not need to be discussed with most  adults over age 26 years

Updated ACOG HPV vaccine recommendations

  • Routine HPV vaccination is recommended for females and males
  • Target age is 11-12 years but can be given through age 26
    • Can be given from age of 9
  • Do not test for HPV DNA prior to vaccination
    • Vaccinate even if patient was tested and is HPV DNA positive
  •  If not vaccinated between 11-12 years
    • Vaccinate between 13–26 years (catch up period)
  • Women 27–45 years and not previously unvaccinated
    • Use shared clinical decision making
  • ACOG “does not recommend that an individual who received the quadrivalent HPV vaccine be revaccinated with 9-valent HPV vaccine, including those aged 27–45 years who previously completed some, but not all, of the vaccine series when they were younger”
  • Pregnancy
    • HPV vaccine is not recommended during pregnancy
    • Pregnancy testing prior to HPV vaccination not recommended
    • If vaccination schedule is interrupted by pregnancy, resume postpartum with the next dose
    • HPV vaccine can and should be given to breastfeeding women ≤ 26 who have not been vaccinated
  • Counsel to expect mild local discomfort and that this is not a cause for concern
    • Watch adolescents for at least 15 minutes following vaccination due to risk of fainting in this population

AAP HPV Vaccine Implementation Guidance 2017

  • The AAP  has also endorsed the CDC HPV recommendations and provides the following guidance

The AAP and the ACIP of the CDC recommend HPV vaccination with any available vaccine for routine immunization of females at 11 or 12 years of age, and recommend either 9vHPV or 4vHPV** for routine immunization of males 11 or 12 years of age. The vaccination series can be started as young as 9 years of age, and in the case of a child who has been the victim of sexual abuse, HPV vaccination is recommended beginning at 9 years of age.

AAP recommends that physicians frame their HPV discussions with families as an opportunity to prevent HPV-related cancer deaths rather than as an STI vaccine


  • The ACS endorses ACIP CDC guidance regarding HPV guidance except for the approach to take with individuals who are 27 to 45 years and not adequately vaccinated

The ACS does not endorse the 2019 Advisory Committee on Immunization Practices recommendation for shared clinical decision making for some adults aged 27 through 45 years who are not adequately vaccinated because of the low effectiveness and low cancer prevention potential of vaccination in this age group, the burden of decision making on patients and clinicians, and the lack of sufficient guidance on the selection of individuals who might benefit

Learn More – Primary Sources:

FDA approves expanded use of Gardasil 9 to include individuals 27 through 45 years old

Human Papillomavirus Vaccination for Adults: Updated Recommendations of the Advisory Committee on Immunization Practices (MMWR)

CDC: HPV Vaccination Schedules & Recommendations

ACOG Committee Opinion 809: Human Papillomavirus Vaccination

CDC Frequently Asked Questions about HPV Vaccine Safety

CDC HPV Vaccine Fact Sheet for Parents

Human papillomavirus vaccination 2020 guideline update: American Cancer Society guideline adaptation