We were also concerned about insurability. Would patients who tested positive lose their health insurance coverage and, therefore, the ability to have the careful sur- veillance and expensive risk reduction surgeries we were recommending? If employ- ers learned this information, would patients be passed up for promotions or even lose their jobs for fear that they would cost their companies too much money? And, speaking of the surveillance and risk reduction surgeries we were offering, would they even work?
Perhaps mutation carriers would then be at high risk to develop primary cancers in other locations? Although we thought that unlikely and luckily, we were right , we had no long-term data to support this, or any, of our hypotheses.
Much has changed since We now have data demonstrating that there are no serious long-term psychological and emotional sequelae associated with genetic testing. Also, the employment and social repercussions have not been reported as major issues. The surveillance and risk reduction surgeries we recommended, albeit far from perfect, have proven to be extremely effective in reducing cancer risk in carriers. While we have fewer data regarding chemoprevention in these populations, we are optimistic that these drugs may also reduce risk in these high risk families.
Interestingly, the issues that have generated the greatest dangers in the field of genetic counseling and testing are those we did not anticipate. Namely, how gene patents would create corporate monopolies and thwart competition, research and data-sharing in the field, and how this would impact pricing, access, and market- ing of genetic testing. As you will read in Brierley et al. Risk assessment for these syndromes is not as simple as punching a few details into a risk calculator or taking just a family history of cancer; there are varied cancerous and noncancerous findings that impact the chance that a syndrome is pres- ent and influence what test should be ordered.
At this critical crossroads in our field, we see that targeted testing for one or two disease genes at a time may soon be coming to an end. The amount and complexity of data these new tests will yield is staggering. The amount of ambiguity in test results may increase by hundred-fold, making genetic counseling and result interpretation substantially more challenging—even for those of us who are experts in this field. And yet, ironically, complex genetic testing is now being mar- keted directly to consumers.
And so, the journey picks up speed and continues. Many thanks to my colleagues, some of the brightest minds in this field, who have donated their time and expertise to write the elegant and thorough chapters you will now have the opportunity to read. Matloff, MS c Wolters Kluwer. San Diego, California Tricia Z. The evolution of this field has created a need for accurate cancer genetic counseling and risk assessment.
Extensive coverage of this topic by the media and widespread advertising by commercial testing laboratories have further fueled the demand for counseling and testing. Cancer genetic counseling is a communication process between a health care professional and an individual concerning cancer occurrence and risk in his or her family.
It also involves deciphering whether the cancers in a fam- ily are likely to be caused by a mutation in a cancer gene and, if so, which one. There are 30 hereditary cancer syndromes, many of which can be caused by mutations in different genes. Therefore, testing for these syndromes can be complicated.
Advertise- ments by genetic testing companies bill genetic testing as a simple process that can be carried out by health care professionals with no training in this area; however, there are many genes involved in cancer, the interpretation of the test results is often complicated, the risk of result misinterpretation is great and associated with poten- tial liability, and the emotional and psychological ramifications for the patient and family can be powerful.
A few hours of training by a company generating a profit from the sale of these tests does not adequately prepare providers to offer their own genetic counseling and testing services. Providers should pro- ceed with caution before taking on the role of primary genetic counselor for their patients.
Matloff and Danielle C. The risk reduction options available are often radical e.
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The ultimate goal of cancer genetic counseling is to help the patient reach the decision best suited to her personal situation, needs, and circumstances. There are now a significant number of referral centers across the country spe- cializing in cancer genetic counseling and the numbers are growing. However, some experts insist that the only way to keep up with the overwhelming demand for coun- seling will be to educate more physicians and nurses in cancer genetics.
The feasibility of adding another specialized and time-consuming task to the clinical burden of these professionals is questionable, particularly with average patient encounters of Covered by many insurance companies.
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TABLE 1. Access to genetic counseling is no longer an issue because there are now internet-, phone-, and satellite-based telemedicine services available Table 1. There are seven crit- ical risk factors in hereditary cancer Table 1. The first is early age of cancer onset. This risk factor, even in the absence of a family history, has been shown to be associated with an increased frequency of germline mutations in many types of cancers. These cancers do not need to be of similar histologic type in order to be caused by a single mutation.
The third risk factor is the clustering of cancers known to be caused by a single gene mutation in one family e. The fourth risk factor is 1. Early age of onset e.
Cancer principles & practice of oncology
Multiple family members on the same side of the pedigree with the same cancer 3. Clustering of cancers in the family known to be caused by a single gene mutation e. Multiple primary cancers in one individual e. Ethnicity e.
Cancer Answers: The History of Chemotherapy, July 6, 2008
Pathologya e. This includes multiple primary breast or colon cancers as well as a single individual with separate cancers known to be caused by a single gene mutation e. Ethnicity also plays a role in determining who is at greatest risk to carry a hereditary cancer mutation. Finally, the last risk factor is pathology.
This risk factor is listed in Table 1. It appears that certain types of cancer are overrepresented in hereditary cancer families. For example, medullary breast cancer appears to be overrepresented in BRCA1 families. In contrast, patients with a borderline or mucinous ovarian carcinoma appear to be at lower risk to carry a BRCA1 or BRCA2 mutation15 and may instead carry a mutation in a different gene. It is already well established that medullary thyroid carcinoma MTC , sebaceous adenoma or carcinoma, adrenocortical carci- noma before the age of 25, and multiple adenomatous, hamartomatous, or juvenile colon polyps are indicative of other rare hereditary cancer syndromes.
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Risk assessment is often limited in families that are small or have few female relatives; in such families, a single risk factor may carry more weight. A less common, but extremely important, finding is the presence of unusual physical findings or birth defects that are known to be associated with rare heredi- tary cancer syndromes. Examples include benign skin findings, autism, large head circumference18,19 and thyroid disorders in Cowden syndrome,ontogenic keratocysts in Gorlin syndrome,20 and desmoid tumors or dental abnormalities in familial adenoma- tous polyposis FAP.
However, as testing evolves from targeted testing of 1 or 2 genes to multigene panels, genetic counseling and test interpretation will become more complex.
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This information, which can be imparted by telephone c Wolters Kluwer. The counselee can then begin to collect medical and family history information and pathology reports that will be essential for the genetic counseling session. Family History An accurate family history is undoubtedly one of the most essential components of the cancer genetic counseling session. Optimally, a family history should include at least three generations; however, patients do not always have this information. For each individual affected with cancer, it is important to document the exact diagnosis, age at diagnosis, treatment strategies, and environmental exposures i.
Cancer diagnoses should be confirmed with pathology reports whenever possible. A study by Love et al. It is common for patients to report a uterine cancer as an ovarian cancer, or a colon polyp as an invasive colorectal cancer. These differences, although seemingly subtle to the patient, can make a tre- mendous difference in risk assessment. Individuals should be asked if there are any consanguineous inbred relationships in the family, if any relatives were born with birth defects or mental retardation, and whether other genetic diseases run in the family e.
The most common misconception in family history taking is that somehow a maternal family history of breast, ovarian, or uterine cancer is more significant than a paternal history. Conversely, many still believe that a paternal history of prostate cancer is more significant than a maternal history.
europeschool.com.ua/profiles/kulebaje/citas-en-paginas-web.php Few cancer genes discovered thus far are located on the sex chromosomes, and therefore both maternal and paternal history are significant and must be explored thoroughly. This has bearing on the cancer status of common children, but may also determine if children are at increased risk for a serious recessive genetic disease such as Fanconi anemia. A detailed family history should also include genetic diseases, birth defects, mental retardation, multiple miscarriages, and infant deaths.
A history of certain recessive genetic diseases e.