The Economics of Genomic Medicine Workshop Summary (2013) / Chapter Skim
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4 Preconception Care and Sequencing
4 Preconception Care and Sequencing
Pages 23-36
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From page 23... ...
• Genetic variants of uncertain significance can present major challenges in the preconception and prenatal period and pro duce extremely difficult counseling scenarios. • Secondary findings from a genomic test must be dealt with on a case-by-case basis.
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From page 24... ...
In terms of high effect size varia tions that would be detected by traditional genetic testing, she is found to be a carrier for Tay-Sachs. In addition, if testing were extended in this scenario beyond what might be considered to be current standard of care, she would be found to harbor a prothrombin gene mutation, as well as variations in CYP2C9 and VKORC, indicating that she is likely to be highly sensitive to warfarin anticoagulation.
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From page 25... ...
Genetic variants of unknown significance can present major challenges in the preconception and prenatal period. Women need to make very difficult reproductive decisions, which can produce extremely difficult counseling scenarios.
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From page 26... ...
. Targeted Results Plus Actionable Variants The second model for the provision of information envisions whole genome sequencing with the return of data relevant only to the current clinical situation and a handful of "actionable variants." In this case, Dolan suggested that an expanded panel of testing for carrier conditions could be offered, such as the Counsyl Universal Genetic Test, which includes more than 100 conditions (Srinivasan et al., 2010)
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From page 27... ...
In the third and final model, whole genome sequencing is conducted, and data relevant to the current clinical situation as well as other potentially significant secondary findings are made available to the patient with the best current data for interpretation. Dolan said that as a provider, she would not be excited about having a lot more information.
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From page 28... ...
For example, diabetes is a huge public health challenge in the Bronx, which leads counseling strategies toward exercise and diet without genetics playing a substantial role. The economics of genetic testing can be very difficult, Dolan concluded, because "we don't really know what we are paying for." Informed decision making is a laudable goal, but testing and counseling are expensive and will not necessarily lead to fewer affected infants.
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From page 29... ...
De novo mutations that are not present prior to conception, such as trisomies, genetic deletions or duplications, and point mutations, can only be detected through intrapartum testing. Such testing, however, could also produce secondary findings that would pose a challenge to patients and providers.
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From page 30... ...
Also, she may not be expecting to receive genetic information about her own health, especially about conditions for which the implications are unclear and the significance unknown. Because of this lack of knowledge, pretest counseling is imperative, said Gilats.
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In the second and third delivery models, the patient would receive results beyond autosomal recessive disorders. Depending on her specific results, she may need to see a specialist and follow up with extra surveillance or management.
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ECONOMIC PERSPECTIVES Scott Grosse, research economist and associate director for health services research and evaluation in the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, pointed out that measures of cost-effectiveness and value to patients will not necessarily coincide. They will in a case such as screening for Tay-Sachs disease, where doing so in Ashkenazi Jewish populations is cost-effective and there is high value for the patient, but they may not with thrombophilia testing, where decisions on whether to prescribe anticoagulation medications are not necessarily driven by a risk-benefit balance.
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From page 33... ...
"They aren't going to be able to pick up the individual test happening, but they are going to see all the downstream impacts in terms of health system use." Finally, Ramsey observed that as the costs of sequencing tests continue to fall, multiple companies will be competing with each other to sell this service. One way they will distinguish themselves is through the number of variants that they report, which will create an incentive to create and generate increasing amounts of genomic data for each person.
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From page 34... ...
DISCUSSION One participant observed that genomic medicine is evolving within the context of a changing health care delivery system. It would behoove the system and the underlying economics to begin to change to incorporate genomic medicine because eventually it will be part of standard medical practice, whether 10 years or 50 years from now.
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From page 35... ...
For example, they could recommend enzyme testing. In response to a question about malpractice litigation arising out of genomic testing, Beaudet said that the possibility exists.
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