GeneTrends™

In Dr. Bruce Beuhler’s latest post on his blog Human Genome and Clinical Diagnosis: The Yin and the Yang, he calls for the long overdue recognition of genetic counselors as valuable members of the healthcare team.

As Dr. Beuhler accurately points out:

“Many states do not license Genetic Counselors, and therefore insurers refuse to pay for services or assign codes for genetic counseling. The lack of reimbursement for genetic counseling services has limited placement of Board Certified counselors in private practices of Medicine. Presently a significant number of Genetic Counselors are in Academic practices, but are excluded from professional fee plans and faculty positions partly due to lack of recognition through licensure.”

Currently, there are only 6 states that have active licensure rules and regulations in place, while another 6 are currently writing rules and regulations for already passed licensure legislation. Although, there are several more states taking efforts to introduce licensure legislation, this struggle is far from over and widespread lobbying by genetic counselors and other allied health professionals is still needed.

Dr. Beuhler then proclaims:

“Genetic counseling is going to be a significant part of medical practice in the future, and quality patient care will require Genetic Counselors to be available to patients. It is time for the Medical Societies, AMA, and Practitioners to lobby for licensure in their states and at a National level. Also, reimbursement for genetic counseling will allow greater accessibility to patients within a medical practice. Genetic Counselors are truly practice expanders and valuable partners for Clinicians dealing with Genetic conditions.”

Thank you, Dr. Beuhler for your thoughtful post! As we know, all patients deserve getting the care and support they need from qualified medical professionals.  We share your goals and your vision and are doing our part by at least making access to genetic professionals a little easier with our recently launched partnership with InformedDNA to make genetic counseling available by phone.

Sometimes, it takes a blockbuster movie like Extraordinary Measures, in theaters now, to increase public awareness of a rare and neglected genetic disease.  The movie, which stars Brendan Fraser, Keri Russell and Harrison Ford, is inspired by the story of John and Aileen Crowley, who have two children with Pompe disease.  In the 1990’s, John Crowley collaborated with a scientist named William Canfield in an ongoing effort to develop treatment for  Pompe disease.

Pompe disease (also known as Glycogen Storage Disease Type II) affects an estimated 1 in 40,000 people in the United States and is caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Pompe disease is caused by mutations in a gene called GAA and is inherited in an autosomal recessive manner, which means that two mutated gene copies, one from each parent, are necessary to cause the disease.

Myozyme®, developed in part and manufactured by Genzyme, is currently the only approved treatment for Pompe disease. Last week, however, the LA Times wrote that researchers at the University of Florida reported progress in identifying a treatment to help patients in late stages of the disease breathe without the assistance of a ventilator.

In truth, there are thousands of families like the Crowleys nationwide, each fighting to bring attention to a rare genetic disease  that affects a loved one.  These families have found heroes at research institutions, foundations and biotech companies working tirelessly to develop treatments for such diseases.  Unfortunately, these efforts usually fall short of developing effective treatments and, too often, another brave individual eventually passes away.

If you or someone you know is a rare genetic disease advocate, please share your story in the comments below (or email us at heroes@accessdna.com).  We are committed to promoting disease awareness in order to help improve disease management and treatment options.  We would love to work with you.

What is AccessDNA?

We are often asked why we founded AccessDNA and how we hope to help people.  As a genetic counselor, I often get calls and emails from people located around the country looking for information about their genetic disease or that of a loved one. They may find my name in a directory at the National Society of Genetic Counselors website or they may find our website by doing a Google search and send me an email.  But, either way, they usually reach out because they are having a hard time finding any relevant information about their genetic disease or finding a genetic counselor in their local area since there are so few of us practicing in the United States. 

We believe access to credible information and genetic services is critical for individuals and their loved ones when faced with a genetic condition.  Access to genetic counseling is especially important because genetic counselors have specialized training in assessing an individual’s risk to develop or pass on a disease or abnormality.  We are also trained in the medical aspects of the disease, such as symptoms and characteristics, disease management and treatment, as well as the psychological implications of disease on an individual or family. 

AccessDNA was founded to help people get guidance and support in this emerging and promising area of medicine.  In an era where our knowledge of the genetics of both rare and common diseases, such as diabetes and heart disease, is rapidly advancing, and tests are being developed daily, everyone can use a little help understanding what this means for themselves and their family. 

It starts with reliable information

AccessDNA offers professionally written information on hundreds of medical conditions such as Fragile X syndrome, Alzheimer’s disease and obesity.  This is not like the general medical information that can be found at most medical websites today, but instead covers those issues related to the genetics of the condition such as:

• How the condition is inherited
• The genes and mutations involved
• Who is likely at risk to be affected
• The benefits and limitations of genetic testing

This information is especially important for anyone who is affected, has an affected family member or who is pregnant or planning a pregnancy and is trying to understand their risks.

Mix in some guidance

AccessDNA also helps individuals and their families understand that there are benefits, limitations and sometimes risks, with any type of genetic or DNA testing.  Importantly, due to a current lack of regulation in the online, at-home genetic testing market, AccessDNA helps by evaluating all of these providers, including the personal genomics (whole genome scanning) companies, based on guidelines established by professional medical organizations. These criteria currently include:

• Does the test provider use only CLIA certified labs?
• Does the test provider have adequate security and encryption policies?
• Does the test provider involve a physician in the ordering or test authorization process?
• Does the test provider offer the genetic counseling?
• Does the test provider have adequate privacy policies, which is particularly important these days in light of the deCODEme bankruptcy and all the questions about ownership of data (and which was discussed in a prior blog post)?

This “Consumer Reports-like” aspect of AccessDNA is aimed at helping people evaluate their online, at-home genetic testing options.

Top it off with some support

Finally, AccessDNA helps individuals and their families find community, support resources, and genetic counseling services.  In AccessDNA’s vibrant and growing community, people can post discussions and questions related to genetic diseases, as well as ask a genetic counselor a direct question.  Affected individuals and their caregivers are often experts in their disorder, and by sharing their knowledge, they can help others who are searching for the resources they need in order to tackle life’s daily challenges.

Individuals can also find out how to schedule an appointment with a genetic counselor via the telephone or internet or find a genetic counselor in their own area using our zip code search.

In our quest to continue to provide broad access to appropriate genetic services, we have taken an important step towards making genetic counseling accessible to a much larger segment of the population.  As I have discussed in a previous post, there are a limited number of practicing genetic counselors in the United States and, of those that exist, most practice in urban areas and university centers, while those who live in non-urban areas are often deprived of these important services.

To achieve this goal, AccessDNA has partnered with Informed Medical Decisions, Inc. to increase access to genetic counseling services to those millions of Americans who might not otherwise be able to access these services.  Informed Medical Decisions is the largest, independent nationwide network of genetic counselors offering telephone-based genetic counseling services in the areas of prenatal, adult and cancer genetics.  These services typically include personalized family history risk analyses, detailed discussion regarding the benefits and limitations of appropriate genetic testing options, and test coordination and interpretation.  We are excited they have agreed to provide our increasingly larger user base with access to these important services continuing to make AccessDNA a leading source for reliable information, services and support to so our users can make informed decisions about the management, treatment and prevention of genetic disease.

For more information or to schedule an appointment, click here.

For the press release, click here.

In his most recent post, Steven Murphy, predicts that Complete Genomics may win the Archon X PRIZE for Genomics in 2010. Daniel MacArthur of the Genetic Future appears to disagree with this prediction.

We spoke to the good people at Archon X PRIZE for Genomics today, and they said this:

“We are excited by the updates that our eight competing teams have reported to us.  However, there really is no way to accurately predict if the Archon X PRIZE for Genomics will be won this year.  We look forward to additional teams entering the competition in 2010 and we anxiously wait to see what the future holds.” 

If they know anything, they are sure keeping it to themselves. With this year’s registration deadline fast approaching, is a 2010 winner likely?

Daniel MacArthur of Genetic Future postulates that deCODEme’s decision to offer existing 23andMe customers the ability to upload their raw data into deCODEme’s service for free is a way to introduce and impress consumers with their own interface.

Dan Vorhaus of Genomics Law Report points out that deCODEme may be looking for a cost-effective manner in which to pursue a DTC genomic research model.

As Daniel MacArthur states in his post:

Those of you who’ve been following the personal genomics industry will know that the value of genome scans is not in the actual generation of the data (this is a straightforward procedure), but in the breadth and quality of the interpretation service.

Maybe, deCODEme is transforming themselves…from test provider to data interpreter. Why?

1. As we all know, the cost of testing is decreasing and “affordable” whole genome sequencing is on the not so distant horizon. This means that margins may be squeezed and more companies may be entering the testing space.  Besides exiting what may become a commodity business, deCODEme may lower the barrier to entry for new test providers by eliminating their need  to build an interpretation service by simply licensing one from deCODEme.

2. There is demand for consistency in data interpretation, as the inconsistency between risk calculation methodologies is one the roadblocks (the biggest being clinical utility) to widespread consumer and professional adoption of these services.

3. If deCODEme’s interface is friendlier and of higher quality, consumers may buy the cheapest test but then pay for a better interpretation. 

It may be one way to cut their overhead, while at the same time, capitalize on what they perceive to be their best asset.

Many people find the holidays to be stressful because of the social, personal and financial responsibilities and obligations they often feel. This stress can be especially problematic for people with mental illness as it can trigger symptoms.

Although the causes of mental illness are largely unknown, they are believed to be multifactorial, which means genetic, lifestyle and environmental factors can contribute to the disorder. Some types of mental illness have a larger genetic component than others. For example, studies have demonstrated that when at least one person in a family has schizophrenia, the risk to close relatives to also develop schizophrenia is higher than the general population risk of 1%.

The estimated recurrence risk for mental illness in a family depends on many factors. These factors may include the number of affected people in the family, the degree of relationship (close, distant) of the affected relatives, as well as the type(s) of mental illness.

As such, although family gatherings have the potential to be overwhelming, they also present a wonderful opportunity to connect with other family members who may also be silently suffering with a similar condition.

Find out more about the genetics of depression, bipolar disease, and schizophrenia.

Find tips for coping with holiday stress at Health.com

Find support for mental illness at:

• Mental Health America
• The Mental Health Foundation
• The Foundation for Mental Health
• American Mental Health Foundation 
• National Alliance on Mental Illness
• National Foundation for Mental Health

 We invite you to comment on this post, if you have any relevant experiences that you’d like to share.

Throughout Darwin’s adult life, the author of “The Origin of Species” was affected with a chronic illness characterized by episodes of nausea and vomiting, stomach and skin problems, and lethargy often associated with headache, visual disturbances, and heart palpitations.

Darwin’s medical symptoms have long been a mystery to historians. While some believed Darwin to be a hypochondriac, others have suggested toxic poisoning as the root of his ailments. Now an associate professor at Monash Univerity in Melbourne, John Hayman, suggests in the December issue of the British Medical Journal, that Darwin, the man made famous for “survival of the fittest,” was himself affected with a genetic disorder called cyclic vomiting syndrome.

Cyclic vomiting syndrome is characterized by attacks of intense nausea, vomiting, and lethargy that can last from hours to days. Additional symptoms can include unusually pale skin (pallor), abdominal pain, diarrhea, headache, and an increased sensitivity to light (photophobia) or to sound (phonophobia). For reasons unknown, affected people are also more likely to experience depression, anxiety, and panic disorder.

Although the exact prevalence of cyclic vomiting syndrome is unknown, many researchers believe that the condition is often misdiagnosed and underdiagnosed as the symptoms are common to many diseases. Many people with cyclic vomiting syndrome have a family history of migraines, and attacks of nausea and vomiting may be replaced by migraine headaches in adulthood.  

In many cases, cyclic vomiting syndrome is associated with mutations in mitochondrial DNA. Mitochondria are small structures within cells that convert energy from food into a form that the cells can use called ATP (adenosine triphoshate). Mitochondria have a small number of their own genes, which are known as mitochondrial DNA or mtDNA. Conditions caused by mutations in mtDNA have maternal inheritance, as all mitochondria, and as such, mtDNA, descend from a small number of mitochondria present in the mother’s egg at conception. Male sperm typically do not contribute mitochondria.

For more information and support, visit: The Cyclic Vomiting Syndrome Association

The holidays are wonderful time to get together with family members to celebrate, give thanks and reconnect. This holiday season take the time to gather and share information about your family’s medical history, as it can help improve prevention and screening of diseases for all family members.

It is most important to talk to your first degree relatives, which include your parents, brothers and sisters, and children. Your second degree relatives are also important, which include your grandparents, uncles and aunts, nieces and nephews, and half-siblings. Information on third degree relatives, such as cousins, great-uncles and great-aunts, can also be helpful.

Here are some tips for collecting a family medical history:

1. Ask your family members about the specifics of their health conditions, including chronic illnesses, such as diabetes and heart disease, development disabilities, cancers, rare diseases, congenital birth defects and pregnancy complications.  Write down this information.
2. List medications your family members are taking.
3. List the formal names of the diseases.
4. List the age of disease onset and gender of affected relatives.
5. List the ethnic backgrounds of your relatives.
6. List birth dates and death dates of relatives.
7. In some cases, it may be helpful to obtain copies of medical records of a living or deceased relative.

Here are some easy to use family medical history tools on the internet:

• U.S. Surgeon General’s Family History Initiative
• Genomedical Connection
• ItRunsinMyFamily.com

AccessDNA also has a tool to help you identify your genetic risk areas to help start the conversion with family members, here. Lastly, be sure to share this information with your doctor!

It’s the end of the year, and it seems everyone is doing a top ten list.  Time magazine even has a Top 10 Everything of 2009 – from animals to politics to business.  At the end of AccessDNA’s first full year on the Internet, I thought it fitting to do our own Top Ten of 2009.

Top Ten Trafficked Conditions of 2009

1. Chromosome Abnormalities
2. Ashkenazi Jewish Diseases
3. Celiac Disease
4. Alzheimer’s Disease
5. Autoimmune Thyroid Diseases (Hashimoto’s Thyroiditis; Graves’ Disease)
6. Hematological Cancers (Leukemia; Lymphoma)
7. Hemochromatosis
8. Breast Cancer
9. Amniotic Band Syndrome
10. Amyotrophic Lateral Sclerosis (ALS)

The AccessDNA team wishes everyone a happy and healthy holiday season!