Doctor insights on:
Mandatory Genetic Screening
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Yes: Theoretically both partners could have their genomes tested for mutations known to cause genetic diseases. All of us have many mutant genes and as long as both parties do not have defects in the same genes, they could avoid autosomal recessive disorders. If dominant or sex linked defects are discovered, it would make genetic counseling and disease avoidance more difficult. ...Read more
Depends: What do you mean? To date, all states have screening programs for recognized metabolic and other disorders where treatment will benefit the child. Many can have a healthy productive life if these are caught early, and devastating outcome marked by seizures or loss of potential function if not. There are many controversial genetic tests that are appropriately limited to personal decision by individual. ...Read more
Screening is done by: Blood tests when family history, ethnicity or consanguinity confers risk of fetal inheritance of a mutant gene from both parents, thus, of having a disease. Screening for genetic accidents that cause chromosome anomalies is offered to all pregnant women. Folks with inherited disorders are counseled about risk of transmission. The disorder is explained to them & to women with + prenatal screens. ...Read more
IVF gene testing: Preimplantation genetic testing is performed on in vitro embruos before they are implanted. The coonceptus is created by in vitro fertilization techniques that obtain eggs and fertilize them by sperm obtained by similar techniques in a petri dish (es). It is used to look for genetically normal/abmormal conceptuses and only implant those without detected abnormalities. ...Read more
Medical records: A complete medical history is important and useful...Bring all the information you have available to your doc/genetic counselor who can review the info and discuss with you about what you need/should do... Good luck... ...Read more
In the future (10-20 yrs), what kind of genetic screening will be available to help parents know children’s liklihood of genetic/other disorders?
It already exists: There are genetic tests out there that look at different alleles and give you some probability as to whether you may develop certain conditions later in life. Whether this information is truly beneficial to the patient and whether you can modify risk knowing that information is all debatable. Now, if you are talking about an expecting parent and genetic conditions in newborn there is screening ...Read more
Blood draw...: Fortunately, many of the common genetic screening tests can be done using blood, thus simple blood draw at your doctor's office or local laboratory centers will likely be all that is needed.. ...Read more
If a family member has ovarian cancer, can genetic screening determine if other family members will get the disease?
Yes: Ovarian cancer, especially pre-menopausal ovarian cancer is a rare disease and I recommend family members of such patients atleast have a genetics consultation to talk about testing. Brca-1 and brca-2 mutations put women at a much higher risk of developing ovarian, breast and endometrial cancers. More common in jewish women. Hnpcc (lynch syndrome) also increases the risks of female cancers. ...Read moreSee 1 more doctor answer
I'm having trouble finding someone in the san antonio area that does genetic screening for frederick's ataxia? Any healthtap connections?
Some suggestions: The largest lab for genetic testing is athena in massachusetts. Major medical schools have sections on genetic disorders, such as harvard, johns hopkins, mayo clinic, ucla. Univ of texas, san antonio, division of neurology could likely help, but the texas system in dallas and houston can likely also assist. ...Read more
During my preconception visit my dr. Was really pushing genetic screening for before we start conceiving. We have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both Caucasian).?
See below: In addition to screening for cystic fibrosis, Indications for screening include, AMONG OTHERS, any one of the following:**A known or suspected hereditary disease in the patient or a family member; **Presence of birth defects, chromosomal abnormality, intellectual disability, developmental delay in a parent, a child, or the child of a family member**Ashkenazi Jewish ethnicity ...Read moreSee 2 more doctor answers
Genetics: If there is a family history of genetic disorder in the families it is better that both get genetic testing done before getting pregnant. Most of these disorders are recessive hence only one parent may have the defect and the children would be fine if both parents have the same genetic defect then there is a 25 percent chance that the child would be affected. So it all depends on ethnicity. ...Read more
Would a 2 y.O a with a severe metabolic disorder show symptoms usually by that age? He had newborn screening normal and genetic testic that normal.
My 1st trimester screening came back very low 1 in 3, 000. I just took the harmony genetic test. Is there any chance my risk can change to high risk?
Not likely: Your numbers are quite good. The 1 in 3000 is based on your first trimester screen which is a probability. The harmony test is based on the fetal dna in your blood. Therefore, it has a higher detection rate than the first trimester screen, and in theory could change--but not highly likely given your good numbers. ...Read moreSee 1 more doctor answer
My mom has peritoneal cancer. I'm 35 and was wondering if this cancer is genetic and is there any screening tests I should have.
Possibly: I suspect that you are talking about primary peritoneal carcinoma which is an uncommon variation of ovarian cancer. This can be seen in patients who have the brca gene mutation and have their ovaries removed. It behaves like ovarian cancer. The best source of advice for a genetic role would be your mother's oncologist. She might be the one to test rather than you. ...Read moreSee 1 more doctor answer
Genetic Disorder: Which genetic disorder is this one? Can you be more specific? ...Read more
Examples are: colonoscopy for colon polyp or cancer; mammograms for breast lesions or cancer; psa a blood test that could indicate enlargement of cancerous prostate tissue; blood sugar or hemoglobin a! c for diabetes. Many think that scanning the whole body will pick up a cancer--in all likelihood, it will not. There also is no good blood test, yet, ...Read more
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