I tumori ereditari del tratto gastro-enterico: un overview sugli aspetti
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1 I tumori ereditari del tratto gastro-enterico: un overview sugli aspetti psico-sociali Marco L. Bellani Francesca Carini Psicologia Clinica e Psico-Oncologia A.O. Ospedale di Circolo e Fondazione Macchi Polo Universitario Varese Università degli Studi dell Insubria Scuola di Medicina - Varese
2 Hereditary Gastrointestinal Cancer Syndromes Without Polyposis
3 Hereditary Gastrointestinal Cancer Syndromes With Polyposis
4 Other Hereditary Cancer Syndromes With Some Gastrointestinal Involvement
5 Background Nascita e sviluppo della Psico-Oncologia La Psico-Onco-Genetica
6 Sommario Il test genetico: motivazioni Impatto psico-sociale del counselling genetico e del test Lo screening psicologico Adesione ai programmi di sorveglianza Il processo di Decision-making Comunicazione ai familiari Cambiamento negli stili di vita Supporto alle famiglie
7 Il test genetico: motivazioni (1) Genetic counseling and testing is thought to be beneficial for carriers as well as non-carriers. Mutation carriers are offered a surveillance program. Periodic colonoscopy is an effective means of reducing the incidence and mortality of colorectal cancer in individuals with a family history of this disease. Large-scale surveillance programs for families, using early detection techniques (e.g. colonoscopy) for colorectal premalignant adenomas have shown a 62 % reduction in the incidence of colorectal cancer and a % decrease in mortality.
8 Il test genetico: motivazioni (2) Non-carriers, who are at general population risk, can be released from this burdensome surveillance program. Learning their relatively low risk of developing associated cancers can be a relief, not only for themselves, but also for their offspring. Despite these benefits, not all high-risk individuals want to know their genetic risk status. The uptake rates of genetic testing vary widely between 14 and 75 % of those offered testing.
9 Il test genetico: motivazioni (3) Studies, including those of primarily individuals without cancer, have reported that: early detection of cancer knowledge of one s children s risk reduction of uncertainty information on whether (continued) screening is necessary are the primary reasons for undergoing genetic testing.
10 Il test genetico: motivazioni (4) Among colorectal cancer survivors, motivations for genetic testing were comparable to those of clinic-based samples, and included: learning of the increased risk of offspring and finding out if additional screening was needed.
11 Il test genetico: motivazioni (5) Most frequently stated reasons for declining or early withdrawal from genetic counseling for cancer are: concerns about health insurance (41 %)*; cost of genetic counseling and testing (32 %); potentially adverse emotional impacts of the process on oneself or one s family (30 %); low anticipated benefit (30 %); and time commitment (24 %). * other studies conducted in the U. S. confirm that concern about discrimination by health insurers plays a particularly important role in non-participation in genetic testing.
12 Impatto psicosociale del counselling genetico e del test (1) How psychologically burdensome is genetic testing for newly diagnosed patients? Besides coping with their own diagnosis and discomfort due to the treatment, providing genetic information means that patients will also have to cope with the information that their children and other close relatives are at increased risk for developing cancer, and that they themselves are at life-long increased risk for developing other cancers. Many Authors studied the psychological effects of discussing genetic testing and referring patients during treatment. In these patients, three themes were found. They experienced genetic testing during treatment as: a change in life after the diagnosis of colorectal cancer, a warning for the future, and as important in the communication with family.
13 Impatto psicosociale del counselling genetico e del test (2) Although coping with the physical and psychosocial consequences of colorectal cancer was experienced as a considerable challenge, the advantages of undergoing genetic testing to clarify one s risk and thus enable tailored implementation of preventative strategies, specifically for children, outweighed disadvantages.
14 Impatto psicosociale del counselling genetico e del test (3) Prevalence of distress and risk factors Studies have reported that 6 30 % of individuals receiving genetic counseling for colorectal cancer have clinically relevant levels of distress (e.g. anxiety or depression) or serious cancer-specific worries pre- or post-genetic testing cancers.
15 Impatto psicosociale del counselling genetico e del test (4) Prevalence of distress and risk factors Potential risk factors for psychological distress in individuals undergoing genetic counseling for cancer include: being female education (with conflicting findings about the direction of the association) high cancer risk perception being the first in the family to undergo genetic counseling/testing high levels of distress prior to counseling a history of major or minor depression the experience of parental cancer during childhood lack of social support having received professional psychosocial support/therapy in the past.
16 Impatto psicosociale del counselling genetico e del test (5) Psychological adjustment to genetic testing In summary, findings from prospective studies examining the psychological impact of genetic testing show a clear psychological benefit of testing for unaffected non-carriers and an absence of long-term increases in distress among unaffected carriers. Those who have been affected with cancer and received either positive or uninformative results may be more vulnerable and genetic testing may amplify their former cancer experience.
17 Impatto psicosociale del counselling genetico e del test (6) Risk Perception During genetic counselling, patients are presented with substantial, complex information, which provides the basis for informed decisions related to genetic testing and surveillance. This information includes estimates of the risks of developing cancer and carrying a predisposing mutation. Risk is difficult to quantify accurately by individuals and is not easily understood.
18 Impatto psicosociale del counselling genetico e del test (7) Risk Perception Perception of risk is influenced by familial beliefs about risk, personal experiences and communication within the family. Risk perception is embedded within personal theories where the familial context (i.e. the families experiences and history of cancer) is a key feature of how risk is perceived and utilized, rather than being simply experienced as rational in nature or as medical facts. It is important to notice that risk perception is not only related to one s personal risk, but also to risks in the extended family.
19 Impatto psicosociale del counselling genetico e del test (8) Risk Perception It is the perception of an event rather than the event itself that determines cognitive, emotional and behavioral consequences. Prevention and surveillance programmes offer mutation carriers the opportunity to reduce their risk and/or detect cancer early, and may thus alter the perception of risk.
20 Impatto psicosociale del counselling genetico e del test (9) Self Concept Recent research has incorporated newly developed measures to address specific impacts of genetic testing, such as the impact on self-concept. Self-concept is a complex cognitive construct related to how we think about and evaluate ourselves in relation to the surrounding society and through our experiences. Any new information about the self, including that of genetic knowledge, can be a threat to an existing self-concept. The literature, in fact, describes the notion of a genetic self or a genetic identity and also incorporates future-oriented representations or possibile selves.
21 Screening psicologico For those individuals who have more difficulty coping with their risk or genetic knowledge, associated emotional reactions may impede the assimilation of information and the adoption of preventive measures. Knowledge of factors associated with poor adjustment has contributed to the development of instruments to identify individuals at increased psychological risk. Instruments that measure global symptoms are consistent with the diagnostic classifications of anxiety and/or depression but lack sensitivity to the important and unique issues surrounding genetic testing.
22 Adesione ai programmi di sorveglianza Studies are important in order to ascertain whether individuals who undergo genetic testing translate results from such testing into appropriate screening behaviors. Studies among unaffected carriers following genetic testing found that between 53 and 100 % adhered to recommendations for colonoscopy screening, while only a minority (7 16 %) of noncarriers had colonoscopy screening. However, significant delays of more than 1 year in undergoing screening were observed in 25 % of the cases.
23 Il processo di Decision-making Decision-making about preventative surgery and chemoprevention Preventive colectomy is not routinely recommended for those carrying a mutation. The most likely reason for lack of uptake of colectomy is the demonstrated efficacy of colonoscopy screening, such that surgery may not be considered necessary to prevent colorectal cancer. Data are also accumulating that risk-reducing medication (in particular aspirin) may substantially reduce cancer incidence. Specifically, the international CAPP2 (Colorectal Adenoma/carcinoma Prevention Programme) RCT has demonstrated that 600 mg aspirin per day for a mean of 25 months substantially reduces cancer incidence.
24 La comunicazione ai familiari (1) Communication between an informed, tested member of a family with a genetic problem and other relatives is the critical link in getting relatives to attend for genetic counseling and testing and, when appropriate, to initiate recommended cancer screening at appropriate ages. Without success in these efforts, needless deaths will continue to occur despite our knowledge of the genetic etiology of hereditary gastrointestinal cancer syndromes.
25 La comunicazione ai familiari (2) Considerable international study of the pattern of communication within family members reveals that the telling of adult, first-degree relatives (FDRs) is quite widespread, although not all FDRs are told. Communication to second-degree relatives is considerably less complete. Reasons offered for not communicating with adult relatives include: perception of the recipient as lacking sufficient maturity estrangement and family disruption hesitancy in conveying potentially painful information difficulties understanding complex genetic and medical information.
26 La comunicazione ai familiari (3) In families where there have been fatal cases of cancer, motivation for sharing test results was higher. Telling of minor children may be delayed because of the lack of need for immediate medical action and because of concerns about the children s understanding and maturity to integrate complex information. Families in which cancer occurred at younger ages tended to inform children at younger ages. However, parents often find it difficult to talk to children, including adult children, about the children s cancer risks. Family communication and encouragement from family members is positively associated with colonoscopy adherence.
27 Cambiamento negli stili di vita Several modifiable life style factors, including smoking, alcohol and diet, affect the risk of developing sporadic colorectal cancer. Research on how individuals at increased risk for hereditary cancer view lifestyle behaviors is limited. A study evaluating health and lifestyle among persons at risk of hereditary colorectal cancer showed that a colorectal cancer diagnosis might improve lifestyle behaviors. Unaffected individuals reported lifestyle behaviors comparable to the general population, suggesting that unaffected individuals may benefit from changes in lifestyle behaviors.
28 Supporto alle famiglie Information is a critical need for members of families. Whether it is genetic information, information about the nature or value of riskreduction or prevention strategies, or information to prevent the birth of a next generation of high-risk children, genetics professionals are essential to convey the information and to help members of families to evaluate and personalize it. Distress among members of families has been widely noted, though not typically at levels associated with psychiatric diagnoses. Studies have repeatedly called for more routine availability of psychological services for members of families coping with the complexity of issues, which familial and individual diagnosis can precipitate.
29 Poliposi Adenomatosa Familiare FAP Familial adenomatous polyposis (FAP) is a hereditary form of colorectal cancer characterized by the development of multiple (>100) adenomas in the colorectum from the age of 10 years onward. Without treatment, virtually all individuals with FAP will develop colorectal cancer. Hence, prophylactic surgery is recommended, usually between the ages of 15 and 25 years. A total of 50 90% of patients will also develop premalignant adenomas in the duodenum and 10 15% of the patients develop desmoid tumors, which can result in additional lifethreatening problems, such as abdominal pain and obstruction of the small or large intestines. These life-threatening problems are expected to be psychologically burdensome. To date, few data are available on the psychosocial impact of FAP.
30 FAP
31 FAP
32 FAP
33 Tumore Stromale Gastrointestinale GIST It is well understood that cancer and its treatment can cause medical and psychosocial complications that adversely affect a patient s physical, emotional, social, and cognitive functioning during and after treatment. Most studies address cancers that are frequently diagnosed in adults and children, yet there can be unique psychosocial challenges for specific malignancies that are less frequently encountered. One particular cancer type for which there is a dearth of information is gastrointestinal stromal tumors (GIST). GIST has an estimated incidence of 3,000 new cases per year in the USA with a median age at diagnosis in the 60 s. While the exact incidence is unknown, it is estimated that pediatric cases account for only 1 2% of GIST diagnoses, making these tumors extremely rare in children. Pediatric GIST is both biologically and clinically distinct from the adult form.
34 GIST
35 Conclusioni (1) Recent developments raise some questions, such as how will the associated psychological and social issues be addressed? Evidence to date suggests benefits of comprehensive genetic counseling approaches and strategies to identify those individuals who require additional support are available that allow for optimized utilization of limited resources. Perceived risk, rather than actual risk, of developing cancer is associated with health behaviors, such as adhering to a healthy life style and compliance with recommended surveillance. Perceived risk to a large extent is determined by the prior family experience of cancer and other personal attributes, such as coping style, and less so by the genetic or risk information itself.
36 Conclusioni (2) The recommendation to get tested after a cancer diagnosis may result in additional stress for the patient. Careful preparation and educational support of the patient prior to receiving a genetic test result can assist the patient to cope with an additional diagnosis. Population screening for all colorectal cancer patients will impact not only on prevention strategies but also on treatment decisions. Studies on patient acceptance of, and psychosocial responses to, genomic testing for colorectal cancer risk found that testing had no impact on quality of life, cancer worry or distress, but led to increased uptake of healthy behaviors, such as healthy eating and exercise.
37 Conclusioni (3) More research into the psychosocial aspects of various cultural minorities is therefore warranted. For parents, there can be considerable decisional conflict about how and when to share genetic information with their offspring. Informed young adults will need to make decisions about genetic testing, reproduction, marriage, career, and health behaviors against the background of knowledge of their hereditary disease risks.
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