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1. Best time for genetic counseling is before pregnancy ( Genomics and Genetics Weekly, 2004)

The best time for a woman to seek genetic counseling for heritable conditions is before she becomes pregnant, but at the University of Amsterdam's Department of Clinical Genetics, between 10% and 20% of women seek such a consultation during their pregnancy.

Geneticists there gathered information from women attending the clinic to determine why some women wait to seek genetic counseling.

Consecutive pregnant (n = 100) and non-pregnant (n = 84) women visiting the Department of Clinical Genetics for a genetic risk factor which was not age related completed a questionnaire immediately prior to the consultation.



2. Study: Software Can Provide Bare-Bones Genetic Counseling (Healthcare IT, 2004)

Women unlikely to carry certain cancer mutations may be able to get the information they need from a computer interface, but the flesh-and-blood type are more effective at helping women understand their risk of getting cancer.

Only about 400 genetic counselors nationwide specialize in cancer, and most are in urban areas. Meanwhile, the availability of and demand for genetic tests to detect inherited cancer risk are increasing, according to the researchers. That leaves many women who are concerned about their cancer risk without access to a counselor who can help them decide whether to go through with genetic testing. Computer programs could help fill this gap, postulated the researchers.

The study compared the effectiveness of an interactive computer program to standard genetic counseling for educating women about genetic testing. Just over 200 women with personal or family histories of breast cancer were assigned as having a "high" (over 10 percent) or "low" (under 10 percent) chance of carrying the BRCA1 or BRCA2 mutation, which makes carriers more likely to have breast cancer.

Women in each group were randomly assigned to meet directly with a genetic counselor or to work with a computer program before meeting with a genetic counselor. Surveys before and after each session as well as one month and six months after the study assessed participants knowledge, risk perception, intention to undergo genetic testing, decisional conflict, satisfaction with decision, anxiety and satisfaction with the intervention. The computer program allowed patients to work at their own pace and reread sections as desired.

The computer program was more useful as compared to the counseling by the counselors for the women with low risk mutations. However, genetic counseling was more effective for to reduce the anxiety of womens anxiety and help them to assess their risk of getting breast cancer.

"These results suggest that the computer program has the potential to stand alone as an educational intervention for low-risk women, but should be used in combination with one-on-one genetic counseling for women at high risk," said Michael Green, M.D., M.S., associate professor of humanities and medicine at Penn State College of Medicine, who led the study. Dr. Green has also received royalties from sales of the CD-ROM of the program, which is made available through Medical Audio Visual Communications Inc.

Angela Musial, a cancer genetic counselor at California Pacific Medical Center in San Francisco, said she can envision the program as part of the referral process. "Patients might use it in their primary care physicians, gynecologists or oncologists office to determine if they are candidates for genetic counseling and possible genetic testing," she said. Also she added that such programs might supplement genetic counseling, but could not replace it..


3. Genetic Counseling and Testing for Breast Cancer Affected by Family Communication: Study (MedIndia, March, 2008)
   A recent preliminary study that was presented at the American Society for Preventive Oncology meeting in Bethesda, Md has said that willingness of relatives to talk about their family’s cancer history affects the attitude and knowledge about genetic counseling apart from the testing for those who are at moderate risk for developing breast cancer.
   
   Prior research has shown that African Americans participate less as compared to Caucasians in genetic counseling for breast cancer gene testing. So when they are diagnosed, often they are in an advanced stage of breast cancer and thus are more likely to die from the disease.
   
   “It’s important to understand the benefits of counseling so that we can address better,” said Kristi D. Graves, Ph.D., a clinical psychologist in the Cancer Control program at the Lombardi Comprehensive Cancer Center, part of Georgetown University Medical Center. “In this study, we evaluated the impact of socio-cultural variables on knowledge and attitudes about BRCA 1/2 counseling and testing. We hope to use this information to understand why there’s a difference in testing uptake among black and white women.”
   
   Researchers conducted telephone interviews with 105 women who had a negative breast biopsy history and one or more relatives with breast and/or ovarian cancer (75 Caucasians, 30 African Americans). The researchers assessed cancer history, perceived risk, worry, medical mistrust, cancer fatalism, family/physician communication, race-based experiences, and knowledge and attitudes toward BRCA 1/2 testing.
   
   After controlling for education, income, and socio-cultural variables like medical mistrust and cancer fatalism, it was noticed that there was no statistical difference in knowledge and attititds between African -American and Caucasian women.It was noted that the more family members the women talked with, the level of knowledge about genetic counseling and testing increased.
   
   It was found that those who felt more vulnerable, because they perceived a greater risk of developing breast cancer, had less positive attitudes about genetic testing.
   
   
4. Many High-Risk Women Refuse Breast MRI (Health day, Dec 2009)
   MRI is suggested to detect cancer at an early stage in addition to annual memmogram. Yet, 42 percent of such women in a new study said no to the test.
   
   "We were surprised that so few women wanted to have MRI, even though it was no cost to them," said study author Dr. Wendie A. Berg, a breast imaging specialist at Johns Hopkins' Green Spring Station in Lutherville, Md.
   
   Berg and her colleagues offered 1,215 women at high or intermediate risk of breast cancer an MRI for screening, but 512 women refused the test. They cited claustrophobia, time problems and reluctance to have the contrast medium injected as some of their reasons. They also mentioned financial concerns and the need to travel to get the test.
   
   In an MRI, a powerful magnetic field, radio frequency pulses and a computer produce detailed pictures of organs, soft tissues, bone and other structures. MRI is often used to evaluate the heart, liver, kidney, spleen, pelvic organs, blood vessels and breasts.
   
   
   In the Berg study, the acceptability of the test was lower than expected, said Robert Smith, director of cancer screening for the American Cancer Society (ACS). "I would think most women would accept the test if their doctor suggested it," he said.
   
   The study is published in the January issue of Radiology.
   
   Smith said he was surprised that claustrophobia was cited more often -- by 25.4 percent of the women -- than reluctance to inject the contrast material -- 5.3 percent.
   
   The ACS recommends MRI plus mammograms annually beginning at age 30 for certain groups of women with a high risk of getting breast cancer, which is defined as more than a 20 percent lifetime risk. For instance, those with the genetic mutation known as BRCA1 or 2 would be candidates for getting both.
   
   In the study, some of the women were at intermediate, not high risk, of breast cancer, Smith noted. But Berg said that there is a gray area about what to do with intermediate-risk women as far as adding MRI to their screening program. "There is some evidence that it's of value for intermediate-risk women," she explained. Berg said genetic counseling would be of benefit for some women who are unsure if they are at very high risk of breast cancer. For instance, women who may benefit from genetic counseling and possibly testing for the BRCA1 or 2 mutations include those who are first-degree relatives of a known BRCA mutation carrier and those who have a male family member with breast cancer.
   
   "I think the researchers need to understand a little better what is behind the rejection, and how it might be overcome," Smith said. Berg suspects that once awareness of the value of MRI is raised and more women know it increases cancer detection, there will be a greater interest in getting the test.
   
   
5. Genetic disease testing leads some adults to chose only healthy offsprings (USA Today, Feb, 2010)
   

Many of these diseases are little known and few statistics are kept. But their effects — ranging from blood disorders to muscle decline — can be disabling and often fatal during childhood.

Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion.

More couples with no family history of inherited diseases are getting tested before starting families to see if they carry mutations that put a baby at risk. And a growing number are screening embryos and using only those without problem genes.

The cost of testing is falling, and the number of companies offering it is rising. A 2008 federal law banning gene-based discrimination by insurers and employers has eased fears.

The conference faculty recognized the spectacular progress of medicine in the modern era, which has led to the discovery of new cases of congenital abnormalities and genetic disorders prenatally.


The conference faculty also recommended the popularization of genetic sciences as a major step towards limiting the spread of genetic disorders in the region.