How old is genetic testing

His family history is negative for malignancy. Maternal family history includes her mother, who was diagnosed with breast cancer at age 69 and died at age 73 of metastatic disease. Sarah has 2 living maternal aunts; one aunt aged 96 who was diagnosed with breast cancer at age Her other living aunt, who is now in her 80s, was diagnosed with breast cancer at approximately age She has 2 deceased maternal aunts.

One of these aunts was diagnosed with breast cancer at age 70 and died in her 70s, and the second aunt was diagnosed with breast cancer at approximately age 70 and also died in her 70s. She also has 1 maternal uncle who is deceased, and she does not have information about his history. Her maternal grandmother died of pancreatic cancer at age 80, and she has a great aunt who died of breast cancer in her 40s.

Her paternal family is of English and Irish ancestry. She has multiple generations affected with cancer, early onset of cancer, and multiple cancers associated with the BRCA genes. The genetic counselor now has the option of proceeding with testing for Sarah or encouraging her to contact her maternal aunt, aged 96, who lives in Florida and is a year breast cancer survivor, regarding the option of genetic testing.

Testing the maternal aunt is important for 2 reasons: she is the most informative family member, and testing her is the most cost-effective method. A true negative result would mean a mutation has been identified in the family, and Sarah does not carry it. Thus, she would be managed as general population risk. The genetic counselor discusses genetic testing options with Sarah. Sarah opts to speak with her aunt about genetic testing. For Sarah and other family members, this drastically changes the cost of their genetic test.

Testing the individual in the family most likely to have a gene mutation typically provides the most informative results and is the most cost-effective method for the family.

An individual cannot be too old for genetic testing. Remember, genetic testing is relatively new. Thus, cancer survivors may not have had the option of genetic testing at the time of their diagnosis. Sometimes the most informative family member for genetic testing lives far away, such as on the opposite coast. In cystic fibrosis , for example, finding a problem gene on chromosome number 7 can't predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, having problem genes is only part of the story. Many illnesses develop from a mix of high-risk genes and environmental things, some of which a person can control. Someone who knows they carry high-risk genes might be able to make lifestyle changes to avoid becoming sick.

Research has identified genes that put people at risk for cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is to someday develop specific types of gene therapy to prevent some diseases and illnesses. Gene therapy is being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency an immune deficiency , sickle cell disease , hemophilia , and thalassemia.

But some patients have had severe complications while receiving gene therapy. So the research is carefully controlled. Genetic treatments for some conditions are a long way off. But there is still great hope that many more genetic cures will be found.

The Human Genome Project, completed in , identified and mapped out all genes about 25, carried in our human chromosomes. The map is only the start, but it's a very hopeful beginning. Reviewed by: Larissa Hirsch, MD. Larger text size Large text size Regular text size.

What Is Genetic Testing? To check for others, or if the screening blood test finds a possible problem, doctors may recommend amniocentesis or chorionic villus sampling: Amniocentesis is a test usually done between weeks 15 and 20 of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus. The fluid is checked for genetic problems and can show the sex of the child.

When there's risk of premature birth , amniocentesis can show how far the baby's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

Waldrop, and D. Veldman et al. Martens, J. Zijlmans, S. Poon et al. View at: Google Scholar R. Florijn, L. Bonden, H. Vrolijk et al. Bucksch, M. Ziegler, N.

Kosayakova et al. Speicher, S. Ballard, and D. Tanke, J. Wiegant, R. Nietzel, M. Rocchi, H. Starke et al. Cremer, A. Kurz, R. Zirbel et al. Sun, J. Shen, and H. Boyle, S. Gilchrist, J. Bridger, N. Mahy, J. Ellis, and W. Cheung, N. Nowak, W. Jang et al. Flint, A. Wilkie, V. Buckle, R. Winter, A. Holland, and H. Knight, R. Regan, A. Nicod et al.

Schinzel, and C. Solinas-Toldo, S. Lampel, S. Stilgenbauer et al. View at: Google Scholar D. Pinkel, R. Segraves, D. Sudar et al. Albertson and D. R—R, Kallioniemi, O. Kallioniemi, D. Dijkhuizen, J. Hehir-Kwa et al. Le Scouarnec and S. Wiszniewska, W. Bi, C. Shaw et al. Greisman, N. Hoffman, and H. Saiki, S. Scharf, F. Faloona et al. Guyer and D.

Koshland Jr. Maxam and W. Sanger, S. Nicklen, and A. Lander, L. Linton, B. Birren et al. Venter, M. Adams, E. Myers et al. Brenner, M. Johnson, J. Bridgham et al. Budde, and P. Desai and A. Machini, J. Douglas, A. Braxton, J. Tsipis, and K.