Weekly Twitter Digest for August 27, 2010

Weekly Twitter Digest for August 20, 2010

Weekly Twitter Digest for August 13, 2010

Pathway Genomics Makes Personal Genetic Testing Kits Available Through Retail Pharmacies

Today, the National Society of Genetic Counselors released a statement regarding the sale of personal genetic testing kits through retail pharmacies in response to Pathway Genomics making their testing kits available through Walgreens and later, CVS pharmacies. From the statement:

NSGC recommends individuals ask the following questions before they consider undergoing
genetic testing:

1. What will the test tell me? Discuss with your genetic counselor what you would like to
learn from genetic testing. There are many different types of genetic tests. If the wrong
test is ordered, it may not give you information about your medical concerns.

2. What is the scientific basis for the testing? Some genetic tests provide more conclusive
results than others. Also, a genetic counselor can integrate the test results with your
medical and family history to provide more powerful and useful information.

3. What might you do with the information once you know the results? Consider the
implications of knowing the test results and the impact that could have on you and your
family, both medically, emotionally and in terms of life planning.

4. Will there be a knowledgeable health care professional involved with giving you the test
results? It is important that someone who has expertise in genetics helps you
understand and interpret your test results. For example, genetic counselors have
specialized training in medical genetics and counseling and have Master’s degrees
in their field.

Weekly Twitter Digest for May 7, 2010

Weekly Twitter Digest for April 30, 2010

CDC to Focus on Sickle Cell Disease

Sickle cell anemia (also called sickle cell disease or Hemoglobin SS disease) is a genetic condition that affects hemoglobin, the molecule in red blood cells that transports oxygen throughout the body. Affected people have a variation in hemoglobin called hemoglobin S, which can distort red blood cells into a sickle (or crescent) shape. These “sickled” cells do not last as long as normal, round red blood cells, which leads to anemia and can block blood flow by getting stuck in blood vessels, which may lead to pain and organ damage.

Additional symptoms may include: fatigue, delayed growth and development, yellowing of the eyes and skin (jaundice), and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension).

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Weekly Twitter Digest for April 9, 2010

The Truth About Down Syndrome

In the last couple of months, I have read an increasing number of news articles and comments to these articles filled with misconceptions about Down syndrome.  Here is my attempt to clarify some of them.

What is Down syndrome?

Down syndrome (also called Trisomy 21) is associated with mental retardation (mild to severe), a characteristic facial appearance, and low muscle tone (hypotonia) in infancy. People affected with this condition are at an increased risk for congenital heart defects, vision problems, digestive problems (such as gastroesophageal reflux or celiac disease), hearing loss, hypothyroidism, early-onset Alzheimer’s disease and cancer of blood-forming tissue (leukemia).

The  Truth

The truth is that although people with Down  syndrome share some key characteristics and risks, they are as different as you and me. For example -

  • Most individuals have moderate mental retardation; however, some individuals do have severe mental retardation.
  • Anyone can have a child with Down syndrome. The risk to have a child with Down syndrome increases with maternal age. During pregnancy, this risk may be modified by blood screening tests or ultrasound findings suggestive of Down syndrome.
  • A blood screening test or ultrasound findings may increase the likelihood that the pregnancy is affected with Down syndrome, but these tests are not diagnostic. A fetal chromosome analysis obtained via CVS or amniocentesis is currently the only manner in which to diagnosis a pregnancy with Down syndrome.

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MS Views and News – Bridging the gap between MS organizations

A couple of weeks ago, we started a series of posts profiling non-profit organizations that are helping families affected by genetic disease (including multifactorial disease).

Stuart Schlossman is President and Founder of MS Views and News, Inc.

What is MS Views and News?

We are dedicated to the global collection and distribution of current information concerning Multiple Sclerosis (MS). In collaboration with other organizations, MS Views and News uses state-of-the-art communication  channels to provide information for those affected by, or interested in MS.

We are a place where information and knowledge is provided for anybody affected by Multiple Sclerosis (MS). This includes the patients, caregivers, medical providers and/or anybody just interested in having availability to MS information. We help bridge the gaps to all major MS organizations.

What types of information and resources can someone find there?

Between our website, blog and e-newsletter, we have links to MS resources, MS videos,  a vast library of articles and news about MS as well as MS Facts and information in more than 11 different languages.

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About AccessDNA
AccessDNA is the leading online consumer resource for genetics. The company combines high-quality content about genetics with access to, and evaluation of, relevant testing, counseling and support services.

By providing insight into the genetics of disease, AccessDNA helps people better understand their treatment, management and prevention options.
About Jordanna Joaquina

Jordanna Joaquina, MS, CGC is Director of Genetics and a Co-Founder of AccessDNA. She has a clinical background in multiple disciplines of genetics, including prenatal, adult onset and pediatric.

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