Family information service and hereditary cancer†
We acknowledge the members of hereditary cancer-prone families who have participated in our Family Information Services over the years.
The family information service is an efficient and effective method of educating members of hereditary cancer-prone families.
There has been a groundswell of interest in hereditary forms of cancer during the past 2 decades. This interest has been driven heavily by the attention given by the press to rapidly emerging knowledge about hereditary cancer risk, coupled with news about an increasing number of culprit germ-line mutations predisposing humans to a variety of hereditary cancer-prone disorders. The greatest attention has been fueled by the discovery of BRCA1 and BRCA2 mutations in the mid-1990s and by the response of women who have actively sought greater attention to the early diagnosis of breast cancer in the interest of obtaining life-saving solutions. This surge of attention has prompted physicians to attend education programs and to pay greater attention to the prolific literature on hereditary cancer that has emerged so rapidly. Noteworthy is the formidable responsibility that the American Society of Clinical Oncology (ASCO) has taken in developing education programs on hereditary cancer for oncologists throughout the United States.
A significant problem is that, for the most part, practicing physicians are not prepared to obtain sufficient family histories of cancer to establish a hereditary cancer syndrome diagnosis when it may be occurring in their patients. The attainment of a precise family history of cancer, inclusive of detailed information on the clinical and pathologic findings on the proband, on all of the proband's siblings, progeny, parents, aunts and uncles, and on both sets of grandparents (referred to as the modified nuclear pedigree), will, in most cases, provide sufficient information for the physician to consider cancer proneness and, in certain circumstances, to enable establishment of a hereditary cancer syndrome diagnosis. When examining aunts and uncles and grandparents, the physician is investigating older individuals who have passed through the cancer risk age and, therefore, will be more genetically informative. Further, once the physician has established an hereditary cancer diagnosis, a major challenge is to educate effectively the at-risk members of the extended family.
In this setting, the family information service (FIS) can become extremely valuable to the needs of the family. For example, the family will need to understand the importance of well targeted screening procedures that are melded to the family history and to the natural history of the particular hereditary cancer syndrome. For example, in familial adenomatous polyposis (FAP), family members need to understand the colonic phenotype of multiple adenomatous polyps and the consequence of an extraordinarily high rate of cancer susceptibility, which, when a patient is affected, ultimately requires prophylactic removal of the colon. For families of patients who have hereditary breast-ovarian cancer syndrome (HBOC), members need to know of the availability of BRCA1 and BRCA2 testing, surveillance options, bilateral prophylactic mastectomy,1 and bilateral prophylactic oophorectomy.2
The FIS education program is delivered through research by the Creighton hereditary cancer research team and through private practice in Creighton's Hereditary Cancer Prevention Clinic. We are convinced that the FIS can become a part of most oncology practices, particularly with the help of a genetic counselor or an advanced practice genetics nurse.
Persons at high hereditary cancer risk require extensive knowledge of the genetics, molecular genetics, natural history, and available surveillance and management programs for their specific family cancer disorder. We provide this knowledge with efficiency, making the best use of physician time, through educating a large number of family members in a single setting during an FIS session. Our purposes are to describe the rudiments of the FIS, to stress its simplicity and, in turn, its remarkable effectiveness.3–5
The diagnostic workup of a cancer-prone family precedes the FIS. This process starts by sending a family history questionnaire and medical record release forms to the proband. The proband is asked to consult with other family members to ensure that the family history is as accurate and complete as possible. In addition, the medical record release forms are to be distributed to appropriate family members so that their cancer occurrences can be validated. Once this information is assembled, it can then be cross-referenced for accuracy through interviews with the proband and other key relatives. A careful search is made for those medical–genetic features referred to as “cardinal principles of cancer genetics,” namely, the early age of onset of hereditary cancer, often 15–20 or more years earlier than its sporadic counterpart, specific patterns of multiple primary cancer such as combinations of colorectal cancer (often in the proximal colon), synchronous and metachronous colon cancers, in association with carcinoma of the endometrium or ovary, or more rarely occurring cancer types such as carcinoma of the small bowel or transitional cell carcinoma of the ureter or renal pelvis in the Lynch syndrome II variant of hereditary nonpolyposis colorectal cancer (HNPCC).3 All information is then incorporated into the pedigree and it is carefully reviewed by the genetics team. The next step is the education phase for the family (the family receives education even in the absence of a hereditary syndrome diagnosis). This, then, brings us to setting up the initial FIS, when feasible.
What is the Family Information Service?
The FIS is comparable to a physician's discussion with an individual patient of all the important details of genetics, natural history, DNA testing, and available surveillance and management options for the hereditary cancer syndrome of concern. The FIS differs, however, from the individual discussion as the FIS provides this detailed information to a relatively large number of members of an hereditary cancer-prone family. In our experience, this has ranged from as few as 15–20 to as many as 75 at-risk relatives. Thus, during an FIS, the same educational message is given to as many members of the family as have elected to attend.
The nurse or genetic counselor is responsible for organizing the FIS, including scheduling meeting facilities and individual counseling sessions, thus sparing the physician's time. In the research setting, the FIS, ideally, takes place in the geographic area where most of the family members reside. Depending upon the number of participants expected to attend, the nurse/counselor may select meeting facilities such as the outpatient department of a local hospital or a physician's waiting room. Letters are sent to all family members (including spouses) inviting them to attend the FIS. Several dates are proposed for the convenience of the group, and then a firm date and location are selected. Often a key family member will help organize the FIS and encourage family members to attend.
Blood is drawn from those who fully understand the benefits and risks of genetic testing as discussed at this FIS and who have given written permission for DNA testing, which is based upon their position within the pedigree. A medical technician may accompany the team or be hired at the particular site to perform venipunctures for the DNA tests.
Once the relevant germ-line mutation has been identified within the family and the DNA test results are available for those who have been tested, a second FIS is scheduled. All facets of the natural history and surveillance/management of the disorder and the benefits and risks of knowing one's DNA mutation status are discussed once again. After these detailed educational discussions and after signing the consent form for release of this information, the family members who have been tested receive their results in one-to-one genetic counseling sessions. We prefer to counsel on a one-to-one basis, but patients may want to have significant others accompany them when they receive this information and, of course, we allow this.
We have performed more than 100 FISs during the past several decades, most of which have been attended extremely well and, in our opinion, have been highly successful. They have taken place throughout the United States, Canada, South America, and Europe. For example, with the help of a Spanish translator, the FIS proved to be successful in evaluating and counseling a large Lynch syndrome II kindred group in Uruguay6 and, with a translator of the Navajo language, proved successful in an extended Lynch syndrome II kindred group on a Navajo reservation in Arizona.7 Occasionally, one or more family members request permission to videotape the session so that they can make it available to their relatives who could not attend because of distance and/or incapacitation. This has proven to be successful.
Why Have a Family Information Service?
First of all, the FIS enables the physician to reach a large number of affected and at-risk family members during a single visit and to address those salient issues that pertain to cancer in the family of record. Countless relatives have told us that the FIS was the first time that a physician had discussed “their” family disease and had described it in such a way that they could fully understand what it truly meant from a genetic point of view and how it would impact personally on them, inclusive of available cancer prevention pursuits whenever possible. Importantly, they appreciated that we listened to their questions, recognized their emotional needs, and explained available surveillance and management options. In short, they were able to cast their cancer genetic risk status in accurate and realistic terms.
The FIS also enables family members to provide emotional support to each other in a way that they have not found possible in the past. Group therapy benefits often appear to take place. Shared information about the disease in their family often emerges, which enables us to enhance our knowledge of the particular syndrome.
Over the years, the Creighton cancer genetic research team has had many interesting anecdotal experiences during these FISs. During a recent FIS for an HNPCC family of the Lynch syndrome II variant, a 76 year old lady decided to tell her “cancer story” to her family. Her story included her history of four metachronous colorectal cancers (CRCs), including metastases to the liver. Her first CRC occurred during a pregnancy at age 32 years. Each primary CRC was treated by segmental surgical resection. She then described her experience with endometrial carcinoma, and later she manifested carcinoma of the duodenum. She told her family that when these tumors were diagnosed (in the mid 1950s and early 1960s), there was virtually nothing known about the Lynch syndrome.3 Her account also supported what we now know about improved survival from CRC in the Lynch syndrome.8 She strongly admonished her relatives of the need for lifelong surveillance and management. This was an emotionally moving experience for her family members. Many wondered how she coped with all of this cancer experience. She freely told them of the strong support that she had received from her physicians and her husband. She was a profound example of how individuals experience all of these cancers, survive to a relatively advanced age, and still maintain a sense of humor about the entire matter. Her message was received extremely well. Many of her family members commented that they were deeply moved and that this knowledge, seen “first hand” by “one of us,” would cause them to be more health conscious.
Confidentiality is exceedingly important to virtually all members of cancer-prone families. During the FIS, we tell the family members that none of their information will be released to anyone, including their family physicians, without their signed approval. Our experience is that approximately 90% of our patients wish to have the results of their gene-mutation status sent to them personally. They, in turn, will discuss it with their physicians, with realistic concern about discrimination against their family members from insurance companies should this information appear on their medical record.
The FIS is a highly efficient way of educating and counseling all interested family members from a geographic catchment area during a single session at one location. It enables the physician to educate intensively a large number of family members during a single session, to establish rapport, and, in many cases, to interact with local family physicians who are caring for the family and who may elect to attend the FIS with the family's permission. In short, we strongly advocate the FIS, given its simplicity and its effectiveness.